Canonical Allele Identifier: CA398606737
Gene: MYO15A HGNC NCBI

Linked Data

ClinVar Variation Id: 666880
ClinVar RCV Id: RCV000825396
dbSNP Id: rs1597798474
MyVariant Identifiers: chr17:g.18049290G>C (hg19) chr17:g.18145976G>C (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.18145976G>C , CM000679.2:g.18145976G>C GRCh38
NC_000017.10:g.18049290G>C , CM000679.1:g.18049290G>C GRCh37
NC_000017.9:g.17990015G>C NCBI36
NG_011634.1:g.42271G>C
NG_011634.2:g.42271G>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000647165.2:c.6378G>C MANE Select ENSP00000495481.1:p.Glu2126Asp
ENST00000205890.9:c.6378G>C ENSP00000205890.5:p.Glu2126Asp
ENST00000615845.4:c.6378G>C ENSP00000481642.1:p.Glu2126Asp
NM_016239.3:c.6378G>C NP_057323.3:p.Glu2126Asp
XM_011523917.1:c.6318G>C XP_011522219.1:p.Glu2106Asp
XM_011523918.1:c.6318G>C XP_011522220.1:p.Glu2106Asp
XM_011523921.1:c.6372G>C XP_011522223.1:p.Glu2124Asp
XR_934037.1:n.6977G>C
XR_934038.1:n.6977G>C
XM_011523918.2:c.6318G>C XP_011522220.1:p.Glu2106Asp
XM_017024714.2:c.6318G>C XP_016880203.1:p.Glu2106Asp
XM_017024715.2:c.6381G>C XP_016880204.1:p.Glu2127Asp
XM_024450781.1:c.6213+1384G>C XP_024306549.1:n.6213+1384G>C
NM_016239.4:c.6378G>C MANE Select NP_057323.3:p.Glu2126Asp
Search 100 bp 5'
Search 100 bp 3'