Canonical Allele Identifier: CA2629291479

Gene: NR2E3

Linked Data

• dbSNP Id: rs2140288469
• gnomAD v4: 15-71811434-T-A

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.71811434T>A , CM000677.2:g.71811434T>A	GRCh38
NC_000015.9:g.72103774T>A , CM000677.1:g.72103774T>A	GRCh37
NC_000015.8:g.69890828T>A	NCBI36
NG_009113.2:g.5880T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000617575.5:c.119-49T>A MANE Select	ENSP00000482504.1:n.119-49T>A
ENST00000617575.4:c.119-49T>A	ENSP00000482504.1:n.119-49T>A
ENST00000621098.1:c.119-49T>A	ENSP00000479962.1:n.119-49T>A
ENST00000621736.4:c.-146-49T>A	ENSP00000479254.1:n.-146-49T>A
NM_014249.3:c.119-49T>A	NP_055064.1:n.119-49T>A
NM_016346.3:c.119-49T>A	NP_057430.1:n.119-49T>A
XM_011521146.1:c.-146-49T>A	XP_011519448.1:n.-146-49T>A
NM_014249.4:c.119-49T>A MANE Select	NP_055064.1:n.119-49T>A
NM_016346.4:c.119-49T>A	NP_057430.1:n.119-49T>A