Canonical Allele Identifier: CA338247225

Gene: PADI4

Linked Data

• gnomAD v4: 1-17346044-G-A
• MyVariant Identifiers: chr1:g.17672539G>A (hg19) ; chr1:g.17346044G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.17346044G>A , CM000663.2:g.17346044G>A	GRCh38
NC_000001.10:g.17672539G>A , CM000663.1:g.17672539G>A	GRCh37
NC_000001.9:g.17545126G>A	NCBI36
NG_023261.2:g.42855G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000375448.4:c.952G>A MANE Select	ENSP00000364597.4:p.Asp318Asn
ENST00000468945.1:n.11G>A
NM_012387.2:c.952G>A	NP_036519.2:p.Asp318Asn
XM_011541150.1:c.766G>A	XP_011539452.1:p.Asp256Asn
XM_011541151.1:c.952G>A	XP_011539453.1:p.Asp318Asn
XM_011541152.1:c.415G>A	XP_011539454.1:p.Asp139Asn
XM_011541153.1:c.952G>A	XP_011539455.1:p.Asp318Asn
XM_011541154.1:c.952G>A	XP_011539456.1:p.Asp318Asn
XM_011541155.1:c.952G>A	XP_011539457.1:p.Asp318Asn
XM_011541156.1:c.952G>A	XP_011539458.1:p.Asp318Asn
XM_011541157.1:c.61G>A	XP_011539459.1:p.Asp21Asn
XM_011541154.2:c.952G>A	XP_011539456.1:p.Asp318Asn
NM_012387.3:c.952G>A MANE Select	NP_036519.2:p.Asp318Asn