Canonical Allele Identifier: CA415313430

Gene: OPN1MW

Linked Data

• gnomAD v4: X-154187973-G-A
• MyVariant Identifiers: chrX:g.153453462G>A (hg19) ; chrX:g.154187973G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.154187973G>A , CM000685.2:g.154187973G>A	GRCh38
NC_000023.10:g.153453462G>A , CM000685.1:g.153453462G>A	GRCh37
NG_011606.1:g.10378G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000595290.6:c.316G>A MANE Select	ENSP00000472316.1:p.Ala106Thr
ENST00000595290.5:c.316G>A	ENSP00000472316.1:p.Ala106Thr
ENST00000595330.1:n.326G>A
NM_000513.2:c.316G>A MANE Select	NP_000504.1:p.Ala106Thr