Canonical Allele Identifier: CA393032028
Gene: NR2E3 HGNC NCBI

Linked Data

ClinVar Variation Id: 1076269
dbSNP Id: rs121912631

Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.71811530G>C , CM000677.2:g.71811530G>C GRCh38
NC_000015.9:g.72103870G>C , CM000677.1:g.72103870G>C GRCh37
NC_000015.8:g.69890924G>C NCBI36
NG_009113.2:g.5976G>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000617575.5:c.166G>C MANE Select ENSP00000482504.1:p.Gly56Arg
ENST00000617575.4:c.166G>C ENSP00000482504.1:p.Gly56Arg
ENST00000621098.1:c.166G>C ENSP00000479962.1:p.Gly56Arg
ENST00000621736.4:c.-99G>C ENSP00000479254.1:n.-99G>C
NM_014249.3:c.166G>C NP_055064.1:p.Gly56Arg
NM_016346.3:c.166G>C NP_057430.1:p.Gly56Arg
XM_011521146.1:c.-99G>C XP_011519448.1:n.-99G>C
NM_014249.4:c.166G>C MANE Select NP_055064.1:p.Gly56Arg
NM_016346.4:c.166G>C NP_057430.1:p.Gly56Arg