Canonical Allele Identifier: CA642002

Gene: PADI6

Linked Data

• dbSNP Id: rs759543817
• ExAC: 1:17727894 G / A
• gnomAD v2: 1-17727894-G-A
• gnomAD v3: 1-17401398-G-A
• gnomAD v4: 1-17401398-G-A
• MyVariant Identifiers: chr1:g.17727894G>A (hg19) ; chr1:g.17401398G>A (hg38)

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