Canonical Allele Identifier: CA415312684

Gene: OPN1MW

Linked Data

• gnomAD v4: X-154187842-T-G
• MyVariant Identifiers: chrX:g.153453331T>G (hg19) ; chrX:g.154187842T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.154187842T>G , CM000685.2:g.154187842T>G	GRCh38
NC_000023.10:g.153453331T>G , CM000685.1:g.153453331T>G	GRCh37
NG_011606.1:g.10247T>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000595290.6:c.185T>G MANE Select	ENSP00000472316.1:p.Phe62Cys
ENST00000595290.5:c.185T>G	ENSP00000472316.1:p.Phe62Cys
ENST00000595330.1:n.195T>G
NM_000513.2:c.185T>G MANE Select	NP_000504.1:p.Phe62Cys