Canonical Allele Identifier: CA393032005
Gene: NR2E3 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.71811521A>C , CM000677.2:g.71811521A>C GRCh38
NC_000015.9:g.72103861A>C , CM000677.1:g.72103861A>C GRCh37
NC_000015.8:g.69890915A>C NCBI36
NG_009113.2:g.5967A>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000617575.5:c.157A>C MANE Select ENSP00000482504.1:p.Ser53Arg
ENST00000617575.4:c.157A>C ENSP00000482504.1:p.Ser53Arg
ENST00000621098.1:c.157A>C ENSP00000479962.1:p.Ser53Arg
ENST00000621736.4:c.-108A>C ENSP00000479254.1:n.-108A>C
NM_014249.3:c.157A>C NP_055064.1:p.Ser53Arg
NM_016346.3:c.157A>C NP_057430.1:p.Ser53Arg
XM_011521146.1:c.-108A>C XP_011519448.1:n.-108A>C
NM_014249.4:c.157A>C MANE Select NP_055064.1:p.Ser53Arg
NM_016346.4:c.157A>C NP_057430.1:p.Ser53Arg