Canonical Allele Identifier: CA983655763
Gene: NR1D1 HGNC NCBI

Linked Data

dbSNP Id: rs1987815548
gnomAD v3: 17-40098847-T-A
gnomAD v4: 17-40098847-T-A
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Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.40098847T>A , CM000679.2:g.40098847T>A GRCh38
NC_000017.10:g.38255100T>A , CM000679.1:g.38255100T>A GRCh37
NC_000017.9:g.35508626T>A NCBI36
NG_033084.1:g.6879A>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000246672.4:c.31+1217A>T MANE Select ENSP00000246672.3:n.31+1217A>T
ENST00000246672.3:c.31+1217A>T ENSP00000246672.3:n.31+1217A>T
NM_021724.4:c.31+1217A>T NP_068370.1:n.31+1217A>T
NM_021724.5:c.31+1217A>T MANE Select NP_068370.1:n.31+1217A>T
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