Canonical Allele Identifier: CA393032096
Gene: NR2E3 HGNC NCBI

Linked Data

ClinVar Variation Id: 2818323
ClinVar RCV Id: RCV003713660

Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.71811560G>T , CM000677.2:g.71811560G>T GRCh38
NC_000015.9:g.72103900G>T , CM000677.1:g.72103900G>T GRCh37
NC_000015.8:g.69890954G>T NCBI36
NG_009113.2:g.6006G>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000617575.5:c.196G>T MANE Select ENSP00000482504.1:p.Gly66Cys
ENST00000617575.4:c.196G>T ENSP00000482504.1:p.Gly66Cys
ENST00000621098.1:c.196G>T ENSP00000479962.1:p.Gly66Cys
ENST00000621736.4:c.-69G>T ENSP00000479254.1:n.-69G>T
NM_014249.3:c.196G>T NP_055064.1:p.Gly66Cys
NM_016346.3:c.196G>T NP_057430.1:p.Gly66Cys
XM_011521146.1:c.-69G>T XP_011519448.1:n.-69G>T
NM_014249.4:c.196G>T MANE Select NP_055064.1:p.Gly66Cys
NM_016346.4:c.196G>T NP_057430.1:p.Gly66Cys