Canonical Allele Identifier: CA393032007
Gene: NR2E3 HGNC NCBI

Linked Data

ClinVar Variation Id: 2133877
ClinVar RCV Id: RCV003044660

Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.71811521A>G , CM000677.2:g.71811521A>G GRCh38
NC_000015.9:g.72103861A>G , CM000677.1:g.72103861A>G GRCh37
NC_000015.8:g.69890915A>G NCBI36
NG_009113.2:g.5967A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000617575.5:c.157A>G MANE Select ENSP00000482504.1:p.Ser53Gly
ENST00000617575.4:c.157A>G ENSP00000482504.1:p.Ser53Gly
ENST00000621098.1:c.157A>G ENSP00000479962.1:p.Ser53Gly
ENST00000621736.4:c.-108A>G ENSP00000479254.1:n.-108A>G
NM_014249.3:c.157A>G NP_055064.1:p.Ser53Gly
NM_016346.3:c.157A>G NP_057430.1:p.Ser53Gly
XM_011521146.1:c.-108A>G XP_011519448.1:n.-108A>G
NM_014249.4:c.157A>G MANE Select NP_055064.1:p.Ser53Gly
NM_016346.4:c.157A>G NP_057430.1:p.Ser53Gly