Canonical Allele Identifier: CA393032009
Gene: NR2E3 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.71811522G>C , CM000677.2:g.71811522G>C GRCh38
NC_000015.9:g.72103862G>C , CM000677.1:g.72103862G>C GRCh37
NC_000015.8:g.69890916G>C NCBI36
NG_009113.2:g.5968G>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000617575.5:c.158G>C MANE Select ENSP00000482504.1:p.Ser53Thr
ENST00000617575.4:c.158G>C ENSP00000482504.1:p.Ser53Thr
ENST00000621098.1:c.158G>C ENSP00000479962.1:p.Ser53Thr
ENST00000621736.4:c.-107G>C ENSP00000479254.1:n.-107G>C
NM_014249.3:c.158G>C NP_055064.1:p.Ser53Thr
NM_016346.3:c.158G>C NP_057430.1:p.Ser53Thr
XM_011521146.1:c.-107G>C XP_011519448.1:n.-107G>C
NM_014249.4:c.158G>C MANE Select NP_055064.1:p.Ser53Thr
NM_016346.4:c.158G>C NP_057430.1:p.Ser53Thr