Canonical Allele Identifier: CA393031947

Gene: NR2E3

Linked Data

• dbSNP Id: rs2054179346
• gnomAD v4: 15-71811491-C-T
• MyVariant Identifiers: chr15:g.72103831C>T (hg19) ; chr15:g.71811491C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.71811491C>T , CM000677.2:g.71811491C>T	GRCh38
NC_000015.9:g.72103831C>T , CM000677.1:g.72103831C>T	GRCh37
NC_000015.8:g.69890885C>T	NCBI36
NG_009113.2:g.5937C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000617575.5:c.127C>T MANE Select	ENSP00000482504.1:p.Pro43Ser
ENST00000617575.4:c.127C>T	ENSP00000482504.1:p.Pro43Ser
ENST00000621098.1:c.127C>T	ENSP00000479962.1:p.Pro43Ser
ENST00000621736.4:c.-138C>T	ENSP00000479254.1:n.-138C>T
NM_014249.3:c.127C>T	NP_055064.1:p.Pro43Ser
NM_016346.3:c.127C>T	NP_057430.1:p.Pro43Ser
XM_011521146.1:c.-138C>T	XP_011519448.1:n.-138C>T
NM_014249.4:c.127C>T MANE Select	NP_055064.1:p.Pro43Ser
NM_016346.4:c.127C>T	NP_057430.1:p.Pro43Ser