Canonical Allele Identifier: CA393032129
Gene: NR2E3 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.71811576T>C , CM000677.2:g.71811576T>C GRCh38
NC_000015.9:g.72103916T>C , CM000677.1:g.72103916T>C GRCh37
NC_000015.8:g.69890970T>C NCBI36
NG_009113.2:g.6022T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000617575.5:c.212T>C MANE Select ENSP00000482504.1:p.Phe71Ser
ENST00000617575.4:c.212T>C ENSP00000482504.1:p.Phe71Ser
ENST00000621098.1:c.212T>C ENSP00000479962.1:p.Phe71Ser
ENST00000621736.4:c.-53T>C ENSP00000479254.1:n.-53T>C
NM_014249.3:c.212T>C NP_055064.1:p.Phe71Ser
NM_016346.3:c.212T>C NP_057430.1:p.Phe71Ser
XM_011521146.1:c.-53T>C XP_011519448.1:n.-53T>C
NM_014249.4:c.212T>C MANE Select NP_055064.1:p.Phe71Ser
NM_016346.4:c.212T>C NP_057430.1:p.Phe71Ser