Canonical Allele Identifier: CA491103519

Gene: NR2E3

Linked Data

• ClinVar Variation Id: 1086674
• ClinVar RCV Id: RCV001404488
• dbSNP Id: rs374027410
• gnomAD v4: 15-71811775-G-C
• MyVariant Identifiers: chr15:g.72104115G>C (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.71811775G>C , CM000677.2:g.71811775G>C	GRCh38
NC_000015.9:g.72104115G>C , CM000677.1:g.72104115G>C	GRCh37
NC_000015.8:g.69891169G>C	NCBI36
NG_009113.2:g.6221G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000617575.5:c.255G>C MANE Select	ENSP00000482504.1:p.Val85=
ENST00000617575.4:c.255G>C	ENSP00000482504.1:p.Val85=
ENST00000621098.1:c.255G>C	ENSP00000479962.1:p.Val85=
ENST00000621736.4:c.-10G>C	ENSP00000479254.1:n.-10G>C
NM_014249.3:c.255G>C	NP_055064.1:p.Val85=
NM_016346.3:c.255G>C	NP_057430.1:p.Val85=
XM_011521146.1:c.-10G>C	XP_011519448.1:n.-10G>C
NM_014249.4:c.255G>C MANE Select	NP_055064.1:p.Val85=
NM_016346.4:c.255G>C	NP_057430.1:p.Val85=