Canonical Allele Identifier: CA642002
Gene: PADI6 HGNC NCBI

Linked Data

dbSNP Id: rs759543817
gnomAD v2: 1-17727894-G-A
gnomAD v3: 1-17401398-G-A
gnomAD v4: 1-17401398-G-A

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.17401398G>A , CM000663.2:g.17401398G>A GRCh38
NC_000001.10:g.17727894G>A , CM000663.1:g.17727894G>A GRCh37
NC_000001.9:g.17600481G>A NCBI36
NG_032943.1:g.34153G>A
NG_032943.2:g.34153G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000619609.1:c.2045G>A MANE Select ENSP00000483125.1:p.Arg682Gln
NM_207421.4:c.2045G>A MANE Select NP_997304.3:p.Arg682Gln