Canonical Allele Identifier: CA491103494

Gene: NR2E3

Linked Data

• ClinVar Variation Id: 2839837
• ClinVar RCV Id: RCV003716043
• MyVariant Identifiers: chr15:g.72103911C>T (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.71811571C>T , CM000677.2:g.71811571C>T	GRCh38
NC_000015.9:g.72103911C>T , CM000677.1:g.72103911C>T	GRCh37
NC_000015.8:g.69890965C>T	NCBI36
NG_009113.2:g.6017C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000617575.5:c.207C>T MANE Select	ENSP00000482504.1:p.Gly69=
ENST00000617575.4:c.207C>T	ENSP00000482504.1:p.Gly69=
ENST00000621098.1:c.207C>T	ENSP00000479962.1:p.Gly69=
ENST00000621736.4:c.-58C>T	ENSP00000479254.1:n.-58C>T
NM_014249.3:c.207C>T	NP_055064.1:p.Gly69=
NM_016346.3:c.207C>T	NP_057430.1:p.Gly69=
XM_011521146.1:c.-58C>T	XP_011519448.1:n.-58C>T
NM_014249.4:c.207C>T MANE Select	NP_055064.1:p.Gly69=
NM_016346.4:c.207C>T	NP_057430.1:p.Gly69=