Canonical Allele Identifier: CA983655793
Gene: NR1D1 HGNC NCBI

Linked Data

dbSNP Id: rs144653198
gnomAD v3: 17-40098939-C-T
gnomAD v4: 17-40098939-C-T
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Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.40098939C>T , CM000679.2:g.40098939C>T GRCh38
NC_000017.10:g.38255192C>T , CM000679.1:g.38255192C>T GRCh37
NC_000017.9:g.35508718C>T NCBI36
NG_033084.1:g.6787G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000246672.4:c.31+1125G>A MANE Select ENSP00000246672.3:n.31+1125G>A
ENST00000246672.3:c.31+1125G>A ENSP00000246672.3:n.31+1125G>A
NM_021724.4:c.31+1125G>A NP_068370.1:n.31+1125G>A
NM_021724.5:c.31+1125G>A MANE Select NP_068370.1:n.31+1125G>A
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