Canonical Allele Identifier: CA640414

Gene: PADI4

Linked Data

• dbSNP Id: rs780966400
• ExAC: 1:17660498 G / A
• gnomAD v2: 1-17660498-G-A
• gnomAD v3: 1-17334003-G-A
• gnomAD v4: 1-17334003-G-A
• COSMIC: COSM2093915
• MyVariant Identifiers: chr1:g.17660498G>A (hg19) ; chr1:g.17334003G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.17334003G>A , CM000663.2:g.17334003G>A	GRCh38
NC_000001.10:g.17660498G>A , CM000663.1:g.17660498G>A	GRCh37
NC_000001.9:g.17533085G>A	NCBI36
NG_023261.2:g.30814G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000375448.4:c.334G>A MANE Select	ENSP00000364597.4:p.Gly112Arg
ENST00000375453.5:c.334G>A	ENSP00000364602.1:p.Gly112Arg
NM_012387.2:c.334G>A	NP_036519.2:p.Gly112Arg
XM_011541150.1:c.334G>A	XP_011539452.1:p.Gly112Arg
XM_011541151.1:c.334G>A	XP_011539453.1:p.Gly112Arg
XM_011541152.1:c.-86G>A	XP_011539454.1:n.-86G>A
XM_011541153.1:c.334G>A	XP_011539455.1:p.Gly112Arg
XM_011541154.1:c.334G>A	XP_011539456.1:p.Gly112Arg
XM_011541155.1:c.334G>A	XP_011539457.1:p.Gly112Arg
XM_011541156.1:c.334G>A	XP_011539458.1:p.Gly112Arg
XM_011541157.1:c.-379G>A	XP_011539459.1:n.-379G>A
XM_011541154.2:c.334G>A	XP_011539456.1:p.Gly112Arg
NM_012387.3:c.334G>A MANE Select	NP_036519.2:p.Gly112Arg