Canonical Allele Identifier: CA338255483

Gene: PADI6

Linked Data

• gnomAD v4: 1-17392195-G-T
• MyVariant Identifiers: chr1:g.17392195G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.17392195G>T , CM000663.2:g.17392195G>T	GRCh38
NG_032943.1:g.24950G>T
NG_032943.2:g.24950G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000619609.1:c.1044G>T MANE Select	ENSP00000483125.1:p.Glu348Asp
NM_207421.4:c.1044G>T MANE Select	NP_997304.3:p.Glu348Asp