Canonical Allele Identifier: CA415313253

Gene: OPN1MW

Linked Data

• gnomAD v4: X-154187947-T-A
• MyVariant Identifiers: chrX:g.153453436T>A (hg19) ; chrX:g.154187947T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.154187947T>A , CM000685.2:g.154187947T>A	GRCh38
NC_000023.10:g.153453436T>A , CM000685.1:g.153453436T>A	GRCh37
NG_011606.1:g.10352T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000595290.6:c.290T>A MANE Select	ENSP00000472316.1:p.Val97Asp
ENST00000595290.5:c.290T>A	ENSP00000472316.1:p.Val97Asp
ENST00000595330.1:n.300T>A
NM_000513.2:c.290T>A MANE Select	NP_000504.1:p.Val97Asp