Canonical Allele Identifier: CA415312673

Gene: OPN1MW

Linked Data

• gnomAD v4: X-154187841-T-C
• MyVariant Identifiers: chrX:g.153453330T>C (hg19) ; chrX:g.154187841T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.154187841T>C , CM000685.2:g.154187841T>C	GRCh38
NC_000023.10:g.153453330T>C , CM000685.1:g.153453330T>C	GRCh37
NG_011606.1:g.10246T>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000595290.6:c.184T>C MANE Select	ENSP00000472316.1:p.Phe62Leu
ENST00000595290.5:c.184T>C	ENSP00000472316.1:p.Phe62Leu
ENST00000595330.1:n.194T>C
NM_000513.2:c.184T>C MANE Select	NP_000504.1:p.Phe62Leu