Canonical Allele Identifier: CA232069566
Gene: PARP11 HGNC NCBI

Linked Data

dbSNP Id: rs747454940
gnomAD v2: 12-3913452-G-A
gnomAD v3: 12-3804286-G-A
gnomAD v4: 12-3804286-G-A

Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.3804286G>A , CM000674.2:g.3804286G>A GRCh38
NC_000012.11:g.3913452G>A , CM000674.1:g.3913452G>A GRCh37
NC_000012.10:g.3783713G>A NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000416739.5:c.*196+2602C>T ENSP00000392392.1:n.*196+2602C>T