Canonical Allele Identifier: CA10558949

Gene: OPN1MW

Linked Data

• dbSNP Id: rs782122931
• ExAC: X:153453433 C / T
• gnomAD v2: X-153453433-C-T
• gnomAD v3: X-154187944-C-T
• gnomAD v4: X-154187944-C-T
• MyVariant Identifiers: chrX:g.153453433C>T (hg19) ; chrX:g.154187944C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.154187944C>T , CM000685.2:g.154187944C>T	GRCh38
NC_000023.10:g.153453433C>T , CM000685.1:g.153453433C>T	GRCh37
NG_011606.1:g.10349C>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000595290.6:c.287C>T MANE Select	ENSP00000472316.1:p.Ala96Val
ENST00000595290.5:c.287C>T	ENSP00000472316.1:p.Ala96Val
ENST00000595330.1:n.297C>T
NM_000513.2:c.287C>T MANE Select	NP_000504.1:p.Ala96Val