Canonical Allele Identifier: CA393032100
Gene: NR2E3 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.71811563T>A , CM000677.2:g.71811563T>A GRCh38
NC_000015.9:g.72103903T>A , CM000677.1:g.72103903T>A GRCh37
NC_000015.8:g.69890957T>A NCBI36
NG_009113.2:g.6009T>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000617575.5:c.199T>A MANE Select ENSP00000482504.1:p.Cys67Ser
ENST00000617575.4:c.199T>A ENSP00000482504.1:p.Cys67Ser
ENST00000621098.1:c.199T>A ENSP00000479962.1:p.Cys67Ser
ENST00000621736.4:c.-66T>A ENSP00000479254.1:n.-66T>A
NM_014249.3:c.199T>A NP_055064.1:p.Cys67Ser
NM_016346.3:c.199T>A NP_057430.1:p.Cys67Ser
XM_011521146.1:c.-66T>A XP_011519448.1:n.-66T>A
NM_014249.4:c.199T>A MANE Select NP_055064.1:p.Cys67Ser
NM_016346.4:c.199T>A NP_057430.1:p.Cys67Ser