Canonical Allele Identifier: CA415312189

Gene: OPN1MW

Linked Data

• MyVariant Identifiers: chrX:g.153453266C>A (hg19) ; chrX:g.154187777C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.154187777C>A , CM000685.2:g.154187777C>A	GRCh38
NC_000023.10:g.153453266C>A , CM000685.1:g.153453266C>A	GRCh37
NG_011606.1:g.10182C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000595290.6:c.120C>A MANE Select	ENSP00000472316.1:p.Phe40Leu
ENST00000595290.5:c.120C>A	ENSP00000472316.1:p.Phe40Leu
ENST00000595330.1:n.130C>A
NM_000513.2:c.120C>A MANE Select	NP_000504.1:p.Phe40Leu