Canonical Allele Identifier: CA625964006
Gene: NR1D1 HGNC NCBI

Linked Data

dbSNP Id: rs1287811682
gnomAD v2: 17-38255090-G-A
gnomAD v3: 17-40098837-G-A
gnomAD v4: 17-40098837-G-A
MyVariant Identifiers: chr17:g.38255090G>A (hg19) chr17:g.40098837G>A (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.40098837G>A , CM000679.2:g.40098837G>A GRCh38
NC_000017.10:g.38255090G>A , CM000679.1:g.38255090G>A GRCh37
NC_000017.9:g.35508616G>A NCBI36
NG_033084.1:g.6889C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000246672.4:c.31+1227C>T MANE Select ENSP00000246672.3:n.31+1227C>T
ENST00000246672.3:c.31+1227C>T ENSP00000246672.3:n.31+1227C>T
NM_021724.4:c.31+1227C>T NP_068370.1:n.31+1227C>T
NM_021724.5:c.31+1227C>T MANE Select NP_068370.1:n.31+1227C>T
Search 100 bp 5'
Search 100 bp 3'