Canonical Allele Identifier: CA272575001
Gene: NR2E3 HGNC NCBI

Linked Data

ClinVar Variation Id: 867206
ClinVar RCV Id: RCV001075821 RCV001390830 RCV001593257 RCV001833696
dbSNP Id: rs955766374
gnomAD v2: 15-72104169-C-A
gnomAD v3: 15-71811829-C-A
gnomAD v4: 15-71811829-C-A
MyVariant Identifiers: chr15:g.72104169C>A (hg19) chr15:g.71811829C>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.71811829C>A , CM000677.2:g.71811829C>A GRCh38
NC_000015.9:g.72104169C>A , CM000677.1:g.72104169C>A GRCh37
NC_000015.8:g.69891223C>A NCBI36
NG_009113.2:g.6275C>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000617575.5:c.309C>A MANE Select ENSP00000482504.1:p.Cys103Ter
ENST00000617575.4:c.309C>A ENSP00000482504.1:p.Cys103Ter
ENST00000621098.1:c.309C>A ENSP00000479962.1:p.Cys103Ter
ENST00000621736.4:c.45C>A ENSP00000479254.1:p.Cys15Ter
NM_014249.3:c.309C>A NP_055064.1:p.Cys103Ter
NM_016346.3:c.309C>A NP_057430.1:p.Cys103Ter
XM_011521146.1:c.45C>A XP_011519448.1:p.Cys15Ter
NM_014249.4:c.309C>A MANE Select NP_055064.1:p.Cys103Ter
NM_016346.4:c.309C>A NP_057430.1:p.Cys103Ter
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