Canonical Allele Identifier: CA398607453
Gene: MYO15A HGNC NCBI

Linked Data

MyVariant Identifiers: chr17:g.18049410G>T (hg19) chr17:g.18146096G>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.18146096G>T , CM000679.2:g.18146096G>T GRCh38
NC_000017.10:g.18049410G>T , CM000679.1:g.18049410G>T GRCh37
NC_000017.9:g.17990135G>T NCBI36
NG_011634.1:g.42391G>T
NG_011634.2:g.42391G>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000647165.2:c.6498G>T MANE Select ENSP00000495481.1:p.Lys2166Asn
ENST00000205890.9:c.6498G>T ENSP00000205890.5:p.Lys2166Asn
ENST00000578999.1:n.83G>T
ENST00000615845.4:c.6498G>T ENSP00000481642.1:p.Lys2166Asn
NM_016239.3:c.6498G>T NP_057323.3:p.Lys2166Asn
XM_011523917.1:c.6438G>T XP_011522219.1:p.Lys2146Asn
XM_011523918.1:c.6342+96G>T XP_011522220.1:n.6342+96G>T
XM_011523921.1:c.6492G>T XP_011522223.1:p.Lys2164Asn
XR_934037.1:n.7097G>T
XR_934038.1:n.7097G>T
XM_011523918.2:c.6342+96G>T XP_011522220.1:n.6342+96G>T
XM_017024714.2:c.6438G>T XP_016880203.1:p.Lys2146Asn
XM_017024715.2:c.6501G>T XP_016880204.1:p.Lys2167Asn
XM_024450781.1:c.6213+1504G>T XP_024306549.1:n.6213+1504G>T
NM_016239.4:c.6498G>T MANE Select NP_057323.3:p.Lys2166Asn
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