Canonical Allele Identifier: CA7640234
Gene: NR2E3 HGNC NCBI

Linked Data

ClinVar Variation Id: 1112262
ClinVar RCV Id: RCV001439189
dbSNP Id: rs772583552
ExAC: 15:72103878 C / T
gnomAD v2: 15-72103878-C-T
gnomAD v4: 15-71811538-C-T
MyVariant Identifiers: chr15:g.72103878C>T (hg19) chr15:g.71811538C>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.71811538C>T , CM000677.2:g.71811538C>T GRCh38
NC_000015.9:g.72103878C>T , CM000677.1:g.72103878C>T GRCh37
NC_000015.8:g.69890932C>T NCBI36
NG_009113.2:g.5984C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000617575.5:c.174C>T MANE Select ENSP00000482504.1:p.His58=
ENST00000617575.4:c.174C>T ENSP00000482504.1:p.His58=
ENST00000621098.1:c.174C>T ENSP00000479962.1:p.His58=
ENST00000621736.4:c.-91C>T ENSP00000479254.1:n.-91C>T
NM_014249.3:c.174C>T NP_055064.1:p.His58=
NM_016346.3:c.174C>T NP_057430.1:p.His58=
XM_011521146.1:c.-91C>T XP_011519448.1:n.-91C>T
NM_014249.4:c.174C>T MANE Select NP_055064.1:p.His58=
NM_016346.4:c.174C>T NP_057430.1:p.His58=
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