Canonical Allele Identifier: CA971316552

Gene: NR2E3

Linked Data

• dbSNP Id: rs2054176421
• gnomAD v3: 15-71811288-A-C
• gnomAD v4: 15-71811288-A-C

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.71811288A>C , CM000677.2:g.71811288A>C	GRCh38
NC_000015.9:g.72103628A>C , CM000677.1:g.72103628A>C	GRCh37
NC_000015.8:g.69890682A>C	NCBI36
NG_009113.2:g.5734A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000617575.5:c.119-195A>C MANE Select	ENSP00000482504.1:n.119-195A>C
ENST00000617575.4:c.119-195A>C	ENSP00000482504.1:n.119-195A>C
ENST00000621098.1:c.119-195A>C	ENSP00000479962.1:n.119-195A>C
ENST00000621736.4:c.-146-195A>C	ENSP00000479254.1:n.-146-195A>C
NM_014249.3:c.119-195A>C	NP_055064.1:n.119-195A>C
NM_016346.3:c.119-195A>C	NP_057430.1:n.119-195A>C
XM_011521146.1:c.-146-195A>C	XP_011519448.1:n.-146-195A>C
NM_014249.4:c.119-195A>C MANE Select	NP_055064.1:n.119-195A>C
NM_016346.4:c.119-195A>C	NP_057430.1:n.119-195A>C