Canonical Allele Identifier: CA18648253

Gene: PADI4

Linked Data

• dbSNP Id: rs1003117921
• gnomAD v3: 1-17348014-G-A
• gnomAD v4: 1-17348014-G-A
• MyVariant Identifiers: chr1:g.17674509G>A (hg19) ; chr1:g.17348014G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.17348014G>A , CM000663.2:g.17348014G>A	GRCh38
NC_000001.10:g.17674509G>A , CM000663.1:g.17674509G>A	GRCh37
NC_000001.9:g.17547096G>A	NCBI36
NG_023261.2:g.44825G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000375448.4:c.1121G>A MANE Select	ENSP00000364597.4:p.Arg374Lys
ENST00000468945.1:n.180G>A
ENST00000487048.5:n.88G>A
NM_012387.2:c.1121G>A	NP_036519.2:p.Arg374Lys
XM_011541150.1:c.935G>A	XP_011539452.1:p.Arg312Lys
XM_011541151.1:c.1121G>A	XP_011539453.1:p.Arg374Lys
XM_011541152.1:c.584G>A	XP_011539454.1:p.Arg195Lys
XM_011541153.1:c.1121G>A	XP_011539455.1:p.Arg374Lys
XM_011541154.1:c.1121G>A	XP_011539456.1:p.Arg374Lys
XM_011541155.1:c.1121G>A	XP_011539457.1:p.Arg374Lys
XM_011541156.1:c.1121G>A	XP_011539458.1:p.Arg374Lys
XM_011541157.1:c.230G>A	XP_011539459.1:p.Arg77Lys
XM_011541154.2:c.1121G>A	XP_011539456.1:p.Arg374Lys
NM_012387.3:c.1121G>A MANE Select	NP_036519.2:p.Arg374Lys