Canonical Allele Identifier: CA393031981

Gene: NR2E3

Linked Data

• gnomAD v4: 15-71811509-G-T
• MyVariant Identifiers: chr15:g.72103849G>T (hg19) ; chr15:g.71811509G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.71811509G>T , CM000677.2:g.71811509G>T	GRCh38
NC_000015.9:g.72103849G>T , CM000677.1:g.72103849G>T	GRCh37
NC_000015.8:g.69890903G>T	NCBI36
NG_009113.2:g.5955G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000617575.5:c.145G>T MANE Select	ENSP00000482504.1:p.Val49Leu
ENST00000617575.4:c.145G>T	ENSP00000482504.1:p.Val49Leu
ENST00000621098.1:c.145G>T	ENSP00000479962.1:p.Val49Leu
ENST00000621736.4:c.-120G>T	ENSP00000479254.1:n.-120G>T
NM_014249.3:c.145G>T	NP_055064.1:p.Val49Leu
NM_016346.3:c.145G>T	NP_057430.1:p.Val49Leu
XM_011521146.1:c.-120G>T	XP_011519448.1:n.-120G>T
NM_014249.4:c.145G>T MANE Select	NP_055064.1:p.Val49Leu
NM_016346.4:c.145G>T	NP_057430.1:p.Val49Leu