Canonical Allele Identifier: CA415312838

Gene: OPN1MW

Linked Data

• gnomAD v4: X-154187881-T-C
• MyVariant Identifiers: chrX:g.153453370T>C (hg19) ; chrX:g.154187881T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.154187881T>C , CM000685.2:g.154187881T>C	GRCh38
NC_000023.10:g.153453370T>C , CM000685.1:g.153453370T>C	GRCh37
NG_011606.1:g.10286T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000595290.6:c.224T>C MANE Select	ENSP00000472316.1:p.Leu75Pro
ENST00000595290.5:c.224T>C	ENSP00000472316.1:p.Leu75Pro
ENST00000595330.1:n.234T>C
NM_000513.2:c.224T>C MANE Select	NP_000504.1:p.Leu75Pro