Canonical Allele Identifier: CA338249448

Gene: PADI4

Linked Data

• gnomAD v4: 1-17347945-A-G
• MyVariant Identifiers: chr1:g.17674440A>G (hg19) ; chr1:g.17347945A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.17347945A>G , CM000663.2:g.17347945A>G	GRCh38
NC_000001.10:g.17674440A>G , CM000663.1:g.17674440A>G	GRCh37
NC_000001.9:g.17547027A>G	NCBI36
NG_023261.2:g.44756A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000375448.4:c.1052A>G MANE Select	ENSP00000364597.4:p.Glu351Gly
ENST00000468945.1:n.111A>G
ENST00000487048.5:n.19A>G
NM_012387.2:c.1052A>G	NP_036519.2:p.Glu351Gly
XM_011541150.1:c.866A>G	XP_011539452.1:p.Glu289Gly
XM_011541151.1:c.1052A>G	XP_011539453.1:p.Glu351Gly
XM_011541152.1:c.515A>G	XP_011539454.1:p.Glu172Gly
XM_011541153.1:c.1052A>G	XP_011539455.1:p.Glu351Gly
XM_011541154.1:c.1052A>G	XP_011539456.1:p.Glu351Gly
XM_011541155.1:c.1052A>G	XP_011539457.1:p.Glu351Gly
XM_011541156.1:c.1052A>G	XP_011539458.1:p.Glu351Gly
XM_011541157.1:c.161A>G	XP_011539459.1:p.Glu54Gly
XM_011541154.2:c.1052A>G	XP_011539456.1:p.Glu351Gly
NM_012387.3:c.1052A>G MANE Select	NP_036519.2:p.Glu351Gly