This allele is not present in the registry. To get a canonical identifier, please click on the "Get identifier" below.
Canonical Allele Identifier:
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Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.[81511436A>T;81511459A>T;81511461G>T;81511494A>G] , CM000679.2:g.[81511436A>T;81511459A>T;81511461G>T;81511494A>G] | GRCh38 |
| NC_000017.10:g.[79478462A>T;79478485A>T;79478487G>T;79478520A>G] , CM000679.1:g.[79478462A>T;79478485A>T;79478487G>T;79478520A>G] | GRCh37 |
| NC_000017.9:g.[77093057A>T;77093080A>T;77093082G>T;77093115A>G] | NCBI36 |
| NG_011433.1:g.[6308T>C;6341C>A;6343T>A;6366T>A] |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000570382.2:c.[496T>C;529C>A;531T>A;554T>A] | ENSP00000466346.2:p.[Tyr166His;Arg177Ser;Arg177=;Leu185Gln] | |
| ENST00000571691.6:c.[424T>C;457C>A;459T>A;482T>A] | ENSP00000461407.2:p.[Tyr142His;Arg153Ser;Arg153=;Leu161Gln] | |
| ENST00000571721.6:c.[496T>C;529C>A;531T>A;554T>A] | ENSP00000460660.2:p.[Tyr166His;Arg177Ser;Arg177=;Leu185Gln] | |
| ENST00000572105.7:c.[537T>C;570C>A;572T>A;595T>A] | ENSP00000462823.1:p.[Ser179=;Cys190Ter] | |
| ENST00000573283.7:c.[496T>C;529C>A;531T>A;554T>A] MANE Select | ENSP00000458435.1:p.[Tyr166His;Arg177Ser;Arg177=;Leu185Gln] | |
| ENST00000574671.6:n.[896T>C;929C>A;931T>A;954T>A] | ||
| ENST00000575659.6:c.[496T>C;529C>A;531T>A;554T>A] | ENSP00000459119.2:p.[Tyr166His;Arg177Thr;Leu185Gln] | |
| ENST00000575994.6:c.[496T>C;529C>A;531T>A;554T>A] | ENSP00000460464.2:p.[Tyr166His;Arg177Ser;Arg177=;Leu185Gln] | |
| ENST00000576214.3:n.[797T>C;830C>A;832T>A;855T>A] | ||
| ENST00000576544.6:c.[496T>C;529C>A;531T>A;554T>A] | ENSP00000461672.1:p.[Tyr166His;Arg177Ile;Leu185Gln] | |
| ENST00000615544.5:c.[496T>C;529C>A;531T>A;554T>A] | ENSP00000477968.1:p.[Tyr166His;Arg177Ser;Arg177=;Leu185Gln] | |
| ENST00000644774.2:c.[469T>C;502C>A;504T>A;527T>A] | ENSP00000493648.2:p.[Tyr157His;Arg168Ser;Arg168=;Leu176Gln] | |
| ENST00000679410.1:n.[620T>C;653C>A;655T>A;678T>A] | ||
| ENST00000679480.1:c.[496T>C;529C>A;531T>A;554T>A] | ENSP00000506201.1:p.[Tyr166His;Arg177Ser;Arg177=;Leu185Gln] | |
| ENST00000679535.1:n.[797T>C;830C>A;832T>A;855T>A] | ||
| ENST00000679778.1:c.[496T>C;529C>A;531T>A;554T>A] | ENSP00000505235.1:p.[Tyr166His;Arg177Thr;Leu185Gln] | |
| ENST00000680227.1:c.[496T>C;529C>A;531T>A;554T>A] | ENSP00000506253.1:p.[Tyr166His;Arg177Ser;Arg177=;Leu185Gln] | |
| ENST00000680727.1:c.[496T>C;529C>A;531T>A;554T>A] | ENSP00000505193.1:p.[Tyr166His;Arg177Ser;Arg177=;Leu185Gln] | |
| ENST00000681052.1:c.[496T>C;529C>A;531T>A;554T>A] | ENSP00000505060.1:p.[Tyr166His;Arg177Ser;Arg177=;Leu185Gln] | |
| ENST00000681092.1:c.[*300T>C;*333C>A;*335T>A;*358T>A] | ENSP00000506720.1:n.[*300T>C;*333C>A;*335T>A;*358T>A] | |
| ENST00000681842.1:c.[496T>C;529C>A;531T>A;554T>A] | ENSP00000506126.1:p.[Tyr166His;Arg177Ser;Arg177=;Leu185Gln] | |
| ENST00000331925.6:c.[496T>C;529C>A;531T>A;554T>A] | ENSP00000331514.2:p.[Tyr166His;Arg177Ser;Arg177=;Leu185Gln] | |
| ENST00000571691.5:c.[469T>C;502C>A;504T>A;527T>A] | ENSP00000461407.1:p.[Tyr157His;Arg168Ser;Arg168=;Leu176Gln] | |
| ENST00000572105.6:c.[537T>C;570C>A;572T>A;595T>A] | ENSP00000462823.1:p.[Ser179=;Cys190Ter] | |
| ENST00000573283.5:c.[496T>C;529C>A;531T>A;554T>A] | ENSP00000458435.1:p.[Tyr166His;Arg177=;Leu185Gln] | |
| ENST00000574671.5:n.[355T>C;388C>A;390T>A;413T>A] | ||
| ENST00000575087.5:c.[496T>C;529C>A;531T>A;554T>A] | ENSP00000459124.1:p.[Tyr166His;Arg177Ser;Arg177=;Leu185Gln] | |
| ENST00000575659.5:c.[496T>C;529C>A;531T>A;554T>A] | ENSP00000459119.1:p.[Tyr166His;Arg177Thr;Leu185Gln] | |
| ENST00000575842.5:c.[496T>C;529C>A;531T>A;554T>A] | ENSP00000458162.1:p.[Tyr166His;Arg177Lys;Leu185Gln] | |
| ENST00000575994.5:c.[496T>C;529C>A;531T>A;554T>A] | ENSP00000460464.1:p.[Tyr166His;Arg177Ser;Arg177=;Leu185Gln] | |
| ENST00000576209.5:n.[381T>C;414C>A;416T>A;439T>A] | ||
| ENST00000576214.2:n.[694T>C;727C>A;729T>A;752T>A] | ||
| ENST00000576544.5:c.[496T>C;529C>A;531T>A;554T>A] | ENSP00000461672.1:p.[Tyr166His;Arg177Ile;Leu185Gln] | |
| ENST00000576917.5:n.[549T>C;582C>A;584T>A;607T>A] | ||
| ENST00000615544.4:c.[496T>C;529C>A;531T>A;554T>A] | ENSP00000477968.1:p.[Tyr166His;Arg177Ile;Leu185Gln] | |
| NM_001199954.1:c.[496T>C;529C>A;531T>A;554T>A] | NP_001186883.1:p.[Tyr166His;Arg177Ser;Arg177=;Leu185Gln] | |
| NM_001614.3:c.[496T>C;529C>A;531T>A;554T>A] | NP_001605.1:p.[Tyr166His;Arg177Ile;Leu185Gln] | |
| NR_037688.1:n.[635T>C;668C>A;670T>A;693T>A] | ||
| NM_001199954.2:c.[496T>C;529C>A;531T>A;554T>A] | NP_001186883.1:p.[Tyr166His;Arg177Ser;Arg177=;Leu185Gln] | |
| NM_001614.4:c.[496T>C;529C>A;531T>A;554T>A] | NP_001605.1:p.[Tyr166His;Arg177Ser;Arg177=;Leu185Gln] | |
| NR_037688.2:n.[568T>C;601C>A;603T>A;626T>A] | ||
| NM_001614.5:c.[496T>C;529C>A;531T>A;554T>A] MANE Select | NP_001605.1:p.[Tyr166His;Arg177Ser;Arg177=;Leu185Gln] | |
| NR_037688.3:n.[568T>C;601C>A;603T>A;626T>A] | ||
| NM_001199954.3:c.[496T>C;529C>A;531T>A;554T>A] | NP_001186883.1:p.[Tyr166His;Arg177Ser;Arg177=;Leu185Gln] |