Canonical Allele Identifier: CA415312713

Gene: OPN1MW

Linked Data

• dbSNP Id: rs1284438666
• gnomAD v2: X-153453336-G-A
• gnomAD v4: X-154187847-G-A
• MyVariant Identifiers: chrX:g.153453336G>A (hg19) ; chrX:g.154187847G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.154187847G>A , CM000685.2:g.154187847G>A	GRCh38
NC_000023.10:g.153453336G>A , CM000685.1:g.153453336G>A	GRCh37
NG_011606.1:g.10252G>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000595290.6:c.190G>A MANE Select	ENSP00000472316.1:p.Val64Ile
ENST00000595290.5:c.190G>A	ENSP00000472316.1:p.Val64Ile
ENST00000595330.1:n.200G>A
NM_000513.2:c.190G>A MANE Select	NP_000504.1:p.Val64Ile