Canonical Allele Identifier: CA983655992
Gene: NR1D1 HGNC NCBI

Linked Data

dbSNP Id: rs1433648862
gnomAD v3: 17-40099147-T-C
gnomAD v4: 17-40099147-T-C
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Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.40099147T>C , CM000679.2:g.40099147T>C GRCh38
NC_000017.10:g.38255400T>C , CM000679.1:g.38255400T>C GRCh37
NC_000017.9:g.35508926T>C NCBI36
NG_033084.1:g.6579A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000246672.4:c.31+917A>G MANE Select ENSP00000246672.3:n.31+917A>G
ENST00000246672.3:c.31+917A>G ENSP00000246672.3:n.31+917A>G
NM_021724.4:c.31+917A>G NP_068370.1:n.31+917A>G
NM_021724.5:c.31+917A>G MANE Select NP_068370.1:n.31+917A>G
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