Canonical Allele Identifier: CA272574874
Gene: NR2E3 HGNC NCBI

Linked Data

ClinVar Variation Id: 1641657
ClinVar RCV Id: RCV002140267
dbSNP Id: rs755040583
gnomAD v4: 15-71811601-C-T
MyVariant Identifiers: chr15:g.72103941C>T (hg19) chr15:g.71811601C>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.71811601C>T , CM000677.2:g.71811601C>T GRCh38
NC_000015.9:g.72103941C>T , CM000677.1:g.72103941C>T GRCh37
NC_000015.8:g.69890995C>T NCBI36
NG_009113.2:g.6047C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000617575.5:c.237C>T MANE Select ENSP00000482504.1:p.Leu79=
ENST00000617575.4:c.237C>T ENSP00000482504.1:p.Leu79=
ENST00000621098.1:c.237C>T ENSP00000479962.1:p.Leu79=
ENST00000621736.4:c.-28C>T ENSP00000479254.1:n.-28C>T
NM_014249.3:c.237C>T NP_055064.1:p.Leu79=
NM_016346.3:c.237C>T NP_057430.1:p.Leu79=
XM_011521146.1:c.-28C>T XP_011519448.1:n.-28C>T
NM_014249.4:c.237C>T MANE Select NP_055064.1:p.Leu79=
NM_016346.4:c.237C>T NP_057430.1:p.Leu79=
Search 100 bp 5'
Search 100 bp 3'