Canonical Allele Identifier: CA640788

Gene: PADI4

Linked Data

• dbSNP Id: rs773587729
• ExAC: 1:17674533 A / G
• gnomAD v2: 1-17674533-A-G
• gnomAD v4: 1-17348038-A-G
• MyVariant Identifiers: chr1:g.17674533A>G (hg19) ; chr1:g.17348038A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.17348038A>G , CM000663.2:g.17348038A>G	GRCh38
NC_000001.10:g.17674533A>G , CM000663.1:g.17674533A>G	GRCh37
NC_000001.9:g.17547120A>G	NCBI36
NG_023261.2:g.44849A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000375448.4:c.1145A>G MANE Select	ENSP00000364597.4:p.Lys382Arg
ENST00000468945.1:n.204A>G
ENST00000487048.5:n.112A>G
NM_012387.2:c.1145A>G	NP_036519.2:p.Lys382Arg
XM_011541150.1:c.959A>G	XP_011539452.1:p.Lys320Arg
XM_011541151.1:c.1145A>G	XP_011539453.1:p.Lys382Arg
XM_011541152.1:c.608A>G	XP_011539454.1:p.Lys203Arg
XM_011541153.1:c.1145A>G	XP_011539455.1:p.Lys382Arg
XM_011541154.1:c.1145A>G	XP_011539456.1:p.Lys382Arg
XM_011541155.1:c.1145A>G	XP_011539457.1:p.Lys382Arg
XM_011541156.1:c.1145A>G	XP_011539458.1:p.Lys382Arg
XM_011541157.1:c.254A>G	XP_011539459.1:p.Lys85Arg
XM_011541154.2:c.1145A>G	XP_011539456.1:p.Lys382Arg
NM_012387.3:c.1145A>G MANE Select	NP_036519.2:p.Lys382Arg