Canonical Allele Identifier: CA117571
Gene: NR2E3 HGNC NCBI

Linked Data

ClinVar Variation Id: 5529
dbSNP Id: rs104894492

Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.71811590C>T , CM000677.2:g.71811590C>T GRCh38
NC_000015.9:g.72103930C>T , CM000677.1:g.72103930C>T GRCh37
NC_000015.8:g.69890984C>T NCBI36
NG_009113.2:g.6036C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000617575.5:c.226C>T MANE Select ENSP00000482504.1:p.Arg76Trp
ENST00000617575.4:c.226C>T ENSP00000482504.1:p.Arg76Trp
ENST00000621098.1:c.226C>T ENSP00000479962.1:p.Arg76Trp
ENST00000621736.4:c.-39C>T ENSP00000479254.1:n.-39C>T
NM_014249.3:c.226C>T NP_055064.1:p.Arg76Trp
NM_016346.3:c.226C>T NP_057430.1:p.Arg76Trp
XM_011521146.1:c.-39C>T XP_011519448.1:n.-39C>T
NM_014249.4:c.226C>T MANE Select NP_055064.1:p.Arg76Trp
NM_016346.4:c.226C>T NP_057430.1:p.Arg76Trp