Canonical Allele Identifier: CA253522
Gene: NR2E3 HGNC NCBI

Linked Data

ClinVar Variation Id: 5533
ClinVar RCV Id: RCV000005871 RCV000286602 RCV000787628 RCV001075751
dbSNP Id: rs121912631
gnomAD v3: 15-71811530-G-A
gnomAD v4: 15-71811530-G-A
MyVariant Identifiers: chr15:g.72103870G>A (hg19) chr15:g.71811530G>A (hg38)
PubMed: PMID:17564971 PMID:25326637
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Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.71811530G>A , CM000677.2:g.71811530G>A GRCh38
NC_000015.9:g.72103870G>A , CM000677.1:g.72103870G>A GRCh37
NC_000015.8:g.69890924G>A NCBI36
NG_009113.2:g.5976G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000617575.5:c.166G>A MANE Select ENSP00000482504.1:p.Gly56Arg
ENST00000617575.4:c.166G>A ENSP00000482504.1:p.Gly56Arg
ENST00000621098.1:c.166G>A ENSP00000479962.1:p.Gly56Arg
ENST00000621736.4:c.-99G>A ENSP00000479254.1:n.-99G>A
NM_014249.3:c.166G>A NP_055064.1:p.Gly56Arg
NM_016346.3:c.166G>A NP_057430.1:p.Gly56Arg
XM_011521146.1:c.-99G>A XP_011519448.1:n.-99G>A
NM_014249.4:c.166G>A MANE Select NP_055064.1:p.Gly56Arg
NM_016346.4:c.166G>A NP_057430.1:p.Gly56Arg
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