Canonical Allele Identifier: CA393032415
Gene: NR2E3 HGNC NCBI

Linked Data

ClinVar Variation Id: 2110175
ClinVar RCV Id: RCV003020172
MyVariant Identifiers: chr15:g.72104134G>C (hg19) chr15:g.71811794G>C (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.71811794G>C , CM000677.2:g.71811794G>C GRCh38
NC_000015.9:g.72104134G>C , CM000677.1:g.72104134G>C GRCh37
NC_000015.8:g.69891188G>C NCBI36
NG_009113.2:g.6240G>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000617575.5:c.274G>C MANE Select ENSP00000482504.1:p.Val92Leu
ENST00000617575.4:c.274G>C ENSP00000482504.1:p.Val92Leu
ENST00000621098.1:c.274G>C ENSP00000479962.1:p.Val92Leu
ENST00000621736.4:c.10G>C ENSP00000479254.1:p.Val4Leu
NM_014249.3:c.274G>C NP_055064.1:p.Val92Leu
NM_016346.3:c.274G>C NP_057430.1:p.Val92Leu
XM_011521146.1:c.10G>C XP_011519448.1:p.Val4Leu
NM_014249.4:c.274G>C MANE Select NP_055064.1:p.Val92Leu
NM_016346.4:c.274G>C NP_057430.1:p.Val92Leu
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