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Canonical Allele Identifier:
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Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.[7220994A>C;7221044C>T;7221046T>A] , CM000679.2:g.[7220994A>C;7221044C>T;7221046T>A] | GRCh38 |
| NC_000017.10:g.[7124313A>C;7124363C>T;7124365T>A] , CM000679.1:g.[7124313A>C;7124363C>T;7124365T>A] | GRCh37 |
| NC_000017.9:g.[7065037A>C;7065087C>T;7065089T>A] | NCBI36 |
| NG_007975.1:g.[6161A>C;6211C>T;6213T>A] | |
| NG_008391.2:g.[4005A>T;4007G>A;4057T>G] |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000356839.10:c.[413A>C;463C>T;465T>A] MANE Select | ENSP00000349297.5:p.[Glu138Ala;Leu155Phe;Leu155=] | |
| ENST00000322910.9:c.[*368A>C;*418C>T;*420T>A] | ENSP00000325395.5:n.[*368A>C;*418C>T;*420T>A] | |
| ENST00000350303.9:c.[347A>C;397C>T;399T>A] | ENSP00000344152.5:p.[Glu116Ala;Leu133Phe;Leu133=] | |
| ENST00000356839.9:c.[413A>C;463C>T;465T>A] | ENSP00000349297.5:p.[Glu138Ala;Leu155Phe;Leu155=] | |
| ENST00000543245.6:c.[482A>C;532C>T;534T>A] | ENSP00000438689.2:p.[Glu161Ala;Leu178Phe;Leu178=] | |
| ENST00000577191.5:n.[490A>C;540C>T;542T>A] | ||
| ENST00000577433.5:n.[621A>C;671C>T;673T>A] | ||
| ENST00000577857.5:n.[293+164A>C;293+214C>T;293+216T>A] | ||
| ENST00000579286.5:n.[594A>C;644C>T;646T>A] | ||
| ENST00000579886.2:c.[251A>C;301C>T;303T>A] | ENSP00000463246.1:p.[Glu84Ala;Leu101Ter] | |
| ENST00000580365.1:n.[144A>C;194C>T;196T>A] | ||
| ENST00000581378.5:c.[112A>C;162C>T;164T>A] | ||
| ENST00000581562.5:n.[460A>C;510C>T;512T>A] | ||
| ENST00000582056.5:n.[596A>C;646C>T;648T>A] | ||
| ENST00000582166.1:n.[394A>C;444C>T;446T>A] | ||
| ENST00000583312.5:c.[413A>C;463C>T;465T>A] | ENSP00000467920.1:p.[Glu138Ala;Leu155Phe;Leu155=] | |
| NM_000018.3:c.[413A>C;463C>T;465T>A] | NP_000009.1:p.[Glu138Ala;Leu155Ser] | |
| NM_001033859.2:c.[347A>C;397C>T;399T>A] | NP_001029031.1:p.[Glu116Ala;Leu133Ser] | |
| NM_001270447.1:c.[482A>C;532C>T;534T>A] | NP_001257376.1:p.[Glu161Ala;Leu178Phe;Leu178=] | |
| NM_001270448.1:c.[185A>C;235C>T;237T>A] | NP_001257377.1:p.[Glu62Ala;Leu79Ser] | |
| XM_006721516.2:c.[413A>C;463C>T;465T>A] | XP_006721579.2:p.[Glu138Ala;Leu155Phe;Leu155=] | |
| XM_011523829.1:c.[413A>C;463C>T;465T>A] | XP_011522131.1:p.[Glu138Ala;Leu155Phe;Leu155=] | |
| XM_011523830.1:c.[413A>C;463C>T;465T>A] | XP_011522132.1:p.[Glu138Ala;Leu155Phe;Leu155=] | |
| XR_934021.1:n.[520A>C;570C>T;572T>A] | ||
| XR_934022.1:n.[520A>C;570C>T;572T>A] | ||
| XR_934023.1:n.[520A>C;570C>T;572T>A] | ||
| XM_006721516.3:c.[413A>C;463C>T;465T>A] | XP_006721579.2:p.[Glu138Ala;Leu155Phe;Leu155=] | |
| XM_011523829.2:c.[413A>C;463C>T;465T>A] | XP_011522131.1:p.[Glu138Ala;Leu155Phe;Leu155=] | |
| XM_011523830.2:c.[413A>C;463C>T;465T>A] | XP_011522132.1:p.[Glu138Ala;Leu155Phe;Leu155=] | |
| XM_024450741.1:c.[413A>C;463C>T;465T>A] | XP_024306509.1:p.[Glu138Ala;Leu155Phe;Leu155=] | |
| XR_934021.2:n.[472A>C;522C>T;524T>A] | ||
| XR_934022.2:n.[472A>C;522C>T;524T>A] | ||
| XR_934023.2:n.[472A>C;522C>T;524T>A] | ||
| NM_000018.4:c.[413A>C;463C>T;465T>A] MANE Select | NP_000009.1:p.[Glu138Ala;Leu155Phe;Leu155=] | |
| NM_001033859.3:c.[347A>C;397C>T;399T>A] | NP_001029031.1:p.[Glu116Ala;Leu133Phe;Leu133=] | |
| NM_001270447.2:c.[482A>C;532C>T;534T>A] | NP_001257376.1:p.[Glu161Ala;Leu178Phe;Leu178=] | |
| NM_001270448.2:c.[185A>C;235C>T;237T>A] | NP_001257377.1:p.[Glu62Ala;Leu79Phe;Leu79=] |