Canonical Allele Identifier: CA771897926
Gene: NR1D1 HGNC NCBI

Linked Data

dbSNP Id: rs1330743827
gnomAD v3: 17-40098835-A-G
gnomAD v4: 17-40098835-A-G
MyVariant Identifiers: chr17:g.38255088A>G (hg19) chr17:g.40098835A>G (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.40098835A>G , CM000679.2:g.40098835A>G GRCh38
NC_000017.10:g.38255088A>G , CM000679.1:g.38255088A>G GRCh37
NC_000017.9:g.35508614A>G NCBI36
NG_033084.1:g.6891T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000246672.4:c.31+1229T>C MANE Select ENSP00000246672.3:n.31+1229T>C
ENST00000246672.3:c.31+1229T>C ENSP00000246672.3:n.31+1229T>C
NM_021724.4:c.31+1229T>C NP_068370.1:n.31+1229T>C
NM_021724.5:c.31+1229T>C MANE Select NP_068370.1:n.31+1229T>C
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