Canonical Allele Identifier: CA338249440

Gene: PADI4

Linked Data

• gnomAD v4: 1-17347943-T-G
• MyVariant Identifiers: chr1:g.17674438T>G (hg19) ; chr1:g.17347943T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.17347943T>G , CM000663.2:g.17347943T>G	GRCh38
NC_000001.10:g.17674438T>G , CM000663.1:g.17674438T>G	GRCh37
NC_000001.9:g.17547025T>G	NCBI36
NG_023261.2:g.44754T>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000375448.4:c.1050T>G MANE Select	ENSP00000364597.4:p.Asp350Glu
ENST00000468945.1:n.109T>G
ENST00000487048.5:n.17T>G
NM_012387.2:c.1050T>G	NP_036519.2:p.Asp350Glu
XM_011541150.1:c.864T>G	XP_011539452.1:p.Asp288Glu
XM_011541151.1:c.1050T>G	XP_011539453.1:p.Asp350Glu
XM_011541152.1:c.513T>G	XP_011539454.1:p.Asp171Glu
XM_011541153.1:c.1050T>G	XP_011539455.1:p.Asp350Glu
XM_011541154.1:c.1050T>G	XP_011539456.1:p.Asp350Glu
XM_011541155.1:c.1050T>G	XP_011539457.1:p.Asp350Glu
XM_011541156.1:c.1050T>G	XP_011539458.1:p.Asp350Glu
XM_011541157.1:c.159T>G	XP_011539459.1:p.Asp53Glu
XM_011541154.2:c.1050T>G	XP_011539456.1:p.Asp350Glu
NM_012387.3:c.1050T>G MANE Select	NP_036519.2:p.Asp350Glu