Canonical Allele Identifier: CA117573
Gene: NR2E3 HGNC NCBI

Linked Data

ClinVar Variation Id: 5530
ClinVar RCV Id: RCV000005867 RCV000261496 RCV000668029 RCV001045323 RCV001075864 RCV001449793
dbSNP Id: rs104894493
ExAC: 15:72103931 G / A
gnomAD v2: 15-72103931-G-A
gnomAD v3: 15-71811591-G-A
gnomAD v4: 15-71811591-G-A
MyVariant Identifiers: chr15:g.72103931G>A (hg19) chr15:g.71811591G>A (hg38)
PubMed: PMID:10655056 PMID:17564971 PMID:19006237 PMID:19823680 PMID:19898638 PMID:25999674
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Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.71811591G>A , CM000677.2:g.71811591G>A GRCh38
NC_000015.9:g.72103931G>A , CM000677.1:g.72103931G>A GRCh37
NC_000015.8:g.69890985G>A NCBI36
NG_009113.2:g.6037G>A

Transcript Alleles

HGVS Amino-acid change
ENST00000617575.5:c.227G>A MANE Select ENSP00000482504.1:p.Arg76Gln
ENST00000617575.4:c.227G>A ENSP00000482504.1:p.Arg76Gln
ENST00000621098.1:c.227G>A ENSP00000479962.1:p.Arg76Gln
ENST00000621736.4:c.-38G>A ENSP00000479254.1:n.-38G>A
NM_014249.3:c.227G>A NP_055064.1:p.Arg76Gln
NM_016346.3:c.227G>A NP_057430.1:p.Arg76Gln
XM_011521146.1:c.-38G>A XP_011519448.1:n.-38G>A
NM_014249.4:c.227G>A MANE Select NP_055064.1:p.Arg76Gln
NM_016346.4:c.227G>A NP_057430.1:p.Arg76Gln
Search 100 bp 5'
Search 100 bp 3'