Canonical Allele Identifier: CA7640216

Gene: NR2E3

Linked Data

• ClinVar Variation Id: 846374
• ClinVar RCV Id: RCV001049667 ; RCV001118170 ; RCV001118171 ; RCV001280213 ; RCV003890186
• dbSNP Id: rs555860015
• ExAC: 15:72103827 G / A
• gnomAD v2: 15-72103827-G-A
• gnomAD v3: 15-71811487-G-A
• gnomAD v4: 15-71811487-G-A
• MyVariant Identifiers: chr15:g.72103827G>A (hg19) ; chr15:g.71811487G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.71811487G>A , CM000677.2:g.71811487G>A	GRCh38
NC_000015.9:g.72103827G>A , CM000677.1:g.72103827G>A	GRCh37
NC_000015.8:g.69890881G>A	NCBI36
NG_009113.2:g.5933G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000617575.5:c.123G>A MANE Select	ENSP00000482504.1:p.Val41=
ENST00000617575.4:c.123G>A	ENSP00000482504.1:p.Val41=
ENST00000621098.1:c.123G>A	ENSP00000479962.1:p.Val41=
ENST00000621736.4:c.-142G>A	ENSP00000479254.1:n.-142G>A
NM_014249.3:c.123G>A	NP_055064.1:p.Val41=
NM_016346.3:c.123G>A	NP_057430.1:p.Val41=
XM_011521146.1:c.-142G>A	XP_011519448.1:n.-142G>A
NM_014249.4:c.123G>A MANE Select	NP_055064.1:p.Val41=
NM_016346.4:c.123G>A	NP_057430.1:p.Val41=