Canonical Allele Identifier: CA415313703

Gene: OPN1MW

Linked Data

• gnomAD v3: X-154188014-C-A
• gnomAD v4: X-154188014-C-A
• MyVariant Identifiers: chrX:g.153453503C>A (hg19) ; chrX:g.154188014C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.154188014C>A , CM000685.2:g.154188014C>A	GRCh38
NC_000023.10:g.153453503C>A , CM000685.1:g.153453503C>A	GRCh37
NG_011606.1:g.10419C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000595290.6:c.357C>A MANE Select	ENSP00000472316.1:p.Phe119Leu
ENST00000595290.5:c.357C>A	ENSP00000472316.1:p.Phe119Leu
ENST00000595330.1:n.367C>A
NM_000513.2:c.357C>A MANE Select	NP_000504.1:p.Phe119Leu