Canonical Allele Identifier: CA272574796
Gene: NR2E3 HGNC NCBI

Linked Data

ClinVar Variation Id: 1424217
ClinVar RCV Id: RCV001921481
dbSNP Id: rs368627488
gnomAD v2: 15-72103837-C-T
gnomAD v3: 15-71811497-C-T
gnomAD v4: 15-71811497-C-T
MyVariant Identifiers: chr15:g.72103837C>T (hg19) chr15:g.71811497C>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.71811497C>T , CM000677.2:g.71811497C>T GRCh38
NC_000015.9:g.72103837C>T , CM000677.1:g.72103837C>T GRCh37
NC_000015.8:g.69890891C>T NCBI36
NG_009113.2:g.5943C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000617575.5:c.133C>T MANE Select ENSP00000482504.1:p.Leu45Phe
ENST00000617575.4:c.133C>T ENSP00000482504.1:p.Leu45Phe
ENST00000621098.1:c.133C>T ENSP00000479962.1:p.Leu45Phe
ENST00000621736.4:c.-132C>T ENSP00000479254.1:n.-132C>T
NM_014249.3:c.133C>T NP_055064.1:p.Leu45Phe
NM_016346.3:c.133C>T NP_057430.1:p.Leu45Phe
XM_011521146.1:c.-132C>T XP_011519448.1:n.-132C>T
NM_014249.4:c.133C>T MANE Select NP_055064.1:p.Leu45Phe
NM_016346.4:c.133C>T NP_057430.1:p.Leu45Phe
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