Canonical Allele Identifier: CA415312857

Gene: OPN1MW

Linked Data

• dbSNP Id: rs1557159071
• gnomAD v2: X-153453373-C-T
• gnomAD v4: X-154187884-C-T
• MyVariant Identifiers: chrX:g.153453373C>T (hg19) ; chrX:g.154187884C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.154187884C>T , CM000685.2:g.154187884C>T	GRCh38
NC_000023.10:g.153453373C>T , CM000685.1:g.153453373C>T	GRCh37
NG_011606.1:g.10289C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000595290.6:c.227C>T MANE Select	ENSP00000472316.1:p.Ala76Val
ENST00000595290.5:c.227C>T	ENSP00000472316.1:p.Ala76Val
ENST00000595330.1:n.237C>T
NM_000513.2:c.227C>T MANE Select	NP_000504.1:p.Ala76Val