Canonical Allele Identifier: CA7640231
Gene: NR2E3 HGNC NCBI

Linked Data

ClinVar Variation Id: 1091447
ClinVar RCV Id: RCV001410976 RCV004531250
dbSNP Id: rs768900024
ExAC: 15:72103869 C / T
gnomAD v2: 15-72103869-C-T
gnomAD v4: 15-71811529-C-T
MyVariant Identifiers: chr15:g.72103869C>T (hg19) chr15:g.71811529C>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.71811529C>T , CM000677.2:g.71811529C>T GRCh38
NC_000015.9:g.72103869C>T , CM000677.1:g.72103869C>T GRCh37
NC_000015.8:g.69890923C>T NCBI36
NG_009113.2:g.5975C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000617575.5:c.165C>T MANE Select ENSP00000482504.1:p.Ser55=
ENST00000617575.4:c.165C>T ENSP00000482504.1:p.Ser55=
ENST00000621098.1:c.165C>T ENSP00000479962.1:p.Ser55=
ENST00000621736.4:c.-100C>T ENSP00000479254.1:n.-100C>T
NM_014249.3:c.165C>T NP_055064.1:p.Ser55=
NM_016346.3:c.165C>T NP_057430.1:p.Ser55=
XM_011521146.1:c.-100C>T XP_011519448.1:n.-100C>T
NM_014249.4:c.165C>T MANE Select NP_055064.1:p.Ser55=
NM_016346.4:c.165C>T NP_057430.1:p.Ser55=
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