Canonical Allele Identifier: CA393032487
Gene: NR2E3 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.71811803G>C , CM000677.2:g.71811803G>C GRCh38
NC_000015.9:g.72104143G>C , CM000677.1:g.72104143G>C GRCh37
NC_000015.8:g.69891197G>C NCBI36
NG_009113.2:g.6249G>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000617575.5:c.283G>C MANE Select ENSP00000482504.1:p.Ala95Pro
ENST00000617575.4:c.283G>C ENSP00000482504.1:p.Ala95Pro
ENST00000621098.1:c.283G>C ENSP00000479962.1:p.Ala95Pro
ENST00000621736.4:c.19G>C ENSP00000479254.1:p.Ala7Pro
NM_014249.3:c.283G>C NP_055064.1:p.Ala95Pro
NM_016346.3:c.283G>C NP_057430.1:p.Ala95Pro
XM_011521146.1:c.19G>C XP_011519448.1:p.Ala7Pro
NM_014249.4:c.283G>C MANE Select NP_055064.1:p.Ala95Pro
NM_016346.4:c.283G>C NP_057430.1:p.Ala95Pro