Canonical Allele Identifier: CA10581697
Gene: NR2E3 HGNC NCBI

Linked Data

ClinVar Variation Id: 236514
ClinVar RCV Id: RCV000225466
dbSNP Id: rs878853395

Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.71811555G>T , CM000677.2:g.71811555G>T GRCh38
NC_000015.9:g.72103895G>T , CM000677.1:g.72103895G>T GRCh37
NC_000015.8:g.69890949G>T NCBI36
NG_009113.2:g.6001G>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000617575.5:c.191G>T MANE Select ENSP00000482504.1:p.Cys64Phe
ENST00000617575.4:c.191G>T ENSP00000482504.1:p.Cys64Phe
ENST00000621098.1:c.191G>T ENSP00000479962.1:p.Cys64Phe
ENST00000621736.4:c.-74G>T ENSP00000479254.1:n.-74G>T
NM_014249.3:c.191G>T NP_055064.1:p.Cys64Phe
NM_016346.3:c.191G>T NP_057430.1:p.Cys64Phe
XM_011521146.1:c.-74G>T XP_011519448.1:n.-74G>T
NM_014249.4:c.191G>T MANE Select NP_055064.1:p.Cys64Phe
NM_016346.4:c.191G>T NP_057430.1:p.Cys64Phe