Canonical Allele Identifier: CA7640227

Gene: NR2E3

Linked Data

• dbSNP Id: rs745820285
• ExAC: 15:72103850 T / C
• gnomAD v2: 15-72103850-T-C
• gnomAD v4: 15-71811510-T-C
• MyVariant Identifiers: chr15:g.72103850T>C (hg19) ; chr15:g.71811510T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.71811510T>C , CM000677.2:g.71811510T>C	GRCh38
NC_000015.9:g.72103850T>C , CM000677.1:g.72103850T>C	GRCh37
NC_000015.8:g.69890904T>C	NCBI36
NG_009113.2:g.5956T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000617575.5:c.146T>C MANE Select	ENSP00000482504.1:p.Val49Ala
ENST00000617575.4:c.146T>C	ENSP00000482504.1:p.Val49Ala
ENST00000621098.1:c.146T>C	ENSP00000479962.1:p.Val49Ala
ENST00000621736.4:c.-119T>C	ENSP00000479254.1:n.-119T>C
NM_014249.3:c.146T>C	NP_055064.1:p.Val49Ala
NM_016346.3:c.146T>C	NP_057430.1:p.Val49Ala
XM_011521146.1:c.-119T>C	XP_011519448.1:n.-119T>C
NM_014249.4:c.146T>C MANE Select	NP_055064.1:p.Val49Ala
NM_016346.4:c.146T>C	NP_057430.1:p.Val49Ala