Canonical Allele Identifier: CA393036719

Gene: NR2E3

Linked Data

• MyVariant Identifiers: chr15:g.72105816G>T (hg19) ; chr15:g.71813476G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.71813476G>T , CM000677.2:g.71813476G>T	GRCh38
NC_000015.9:g.72105816G>T , CM000677.1:g.72105816G>T	GRCh37
NC_000015.8:g.69892870G>T	NCBI36
NG_009113.2:g.7922G>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000617575.5:c.835G>T MANE Select	ENSP00000482504.1:p.Ala279Ser
ENST00000617575.4:c.835G>T	ENSP00000482504.1:p.Ala279Ser
ENST00000621098.1:c.835G>T	ENSP00000479962.1:p.Ala279Ser
ENST00000621736.4:c.571G>T	ENSP00000479254.1:p.Ala191Ser
NM_014249.3:c.835G>T	NP_055064.1:p.Ala279Ser
NM_016346.3:c.835G>T	NP_057430.1:p.Ala279Ser
XM_011521146.1:c.571G>T	XP_011519448.1:p.Ala191Ser
NM_014249.4:c.835G>T MANE Select	NP_055064.1:p.Ala279Ser
NM_016346.4:c.835G>T	NP_057430.1:p.Ala279Ser