Canonical Allele Identifier: CA416407804

Gene: PADI6

Linked Data

• dbSNP Id: rs1208120706
• gnomAD v2: 1-17727769-C-G
• gnomAD v4: 1-17401273-C-G
• MyVariant Identifiers: chr1:g.17727769C>G (hg19) ; chr1:g.17401273C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.17401273C>G , CM000663.2:g.17401273C>G	GRCh38
NC_000001.10:g.17727769C>G , CM000663.1:g.17727769C>G	GRCh37
NC_000001.9:g.17600356C>G	NCBI36
NG_032943.1:g.34028C>G
NG_032943.2:g.34028C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000619609.1:c.1920C>G MANE Select	ENSP00000483125.1:p.Thr640=
NM_207421.4:c.1920C>G MANE Select	NP_997304.3:p.Thr640=