Canonical Allele Identifier: CA393031967
Gene: NR2E3 HGNC NCBI

Linked Data

ClinVar Variation Id: 1310560
ClinVar RCV Id: RCV001767674
dbSNP Id: rs1595955883
gnomAD v4: 15-71811502-G-C
MyVariant Identifiers: chr15:g.72103842G>C (hg19) chr15:g.71811502G>C (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.71811502G>C , CM000677.2:g.71811502G>C GRCh38
NC_000015.9:g.72103842G>C , CM000677.1:g.72103842G>C GRCh37
NC_000015.8:g.69890896G>C NCBI36
NG_009113.2:g.5948G>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000617575.5:c.138G>C MANE Select ENSP00000482504.1:p.Gln46His
ENST00000617575.4:c.138G>C ENSP00000482504.1:p.Gln46His
ENST00000621098.1:c.138G>C ENSP00000479962.1:p.Gln46His
ENST00000621736.4:c.-127G>C ENSP00000479254.1:n.-127G>C
NM_014249.3:c.138G>C NP_055064.1:p.Gln46His
NM_016346.3:c.138G>C NP_057430.1:p.Gln46His
XM_011521146.1:c.-127G>C XP_011519448.1:n.-127G>C
NM_014249.4:c.138G>C MANE Select NP_055064.1:p.Gln46His
NM_016346.4:c.138G>C NP_057430.1:p.Gln46His
Search 100 bp 5'
Search 100 bp 3'