Canonical Allele Identifier: CA415312732

Gene: OPN1MW

Linked Data

• dbSNP Id: rs1223726997
• gnomAD v4: X-154187851-T-G
• MyVariant Identifiers: chrX:g.153453340T>G (hg19) ; chrX:g.154187851T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.154187851T>G , CM000685.2:g.154187851T>G	GRCh38
NC_000023.10:g.153453340T>G , CM000685.1:g.153453340T>G	GRCh37
NG_011606.1:g.10256T>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000595290.6:c.194T>G MANE Select	ENSP00000472316.1:p.Ile65Ser
ENST00000595290.5:c.194T>G	ENSP00000472316.1:p.Ile65Ser
ENST00000595330.1:n.204T>G
NM_000513.2:c.194T>G MANE Select	NP_000504.1:p.Ile65Ser