Canonical Allele Identifier: CA639859

Gene: PADI3

Linked Data

• ClinVar Variation Id: 374867
• ClinVar RCV Id: RCV000415579 ; RCV001702455 ; RCV002248652 ; RCV003932540
• dbSNP Id: rs144080386
• ExAC: 1:17597423 C / T
• gnomAD v2: 1-17597423-C-T
• gnomAD v3: 1-17270928-C-T
• gnomAD v4: 1-17270928-C-T
• MyVariant Identifiers: chr1:g.17597423C>T (hg19) ; chr1:g.17270928C>T (hg38)
• PubMed: PMID:22381266 ; PMID:24629392 ; PMID:27866708

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.17270928C>T , CM000663.2:g.17270928C>T	GRCh38
NC_000001.10:g.17597423C>T , CM000663.1:g.17597423C>T	GRCh37
NC_000001.9:g.17470010C>T	NCBI36
NG_052788.1:g.26850C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000375460.3:c.881C>T MANE Select	ENSP00000364609.3:p.Ala294Val
NM_016233.2:c.881C>T MANE Select	NP_057317.2:p.Ala294Val
XM_006710684.2:c.767C>T	XP_006710747.1:p.Ala256Val
XM_011541571.1:c.767C>T	XP_011539873.1:p.Ala256Val
XM_011541572.1:c.881C>T	XP_011539874.1:p.Ala294Val
XM_011541571.2:c.767C>T	XP_011539873.1:p.Ala256Val
XM_011541572.2:c.881C>T	XP_011539874.1:p.Ala294Val
XM_017001463.1:c.344C>T	XP_016856952.1:p.Ala115Val