Canonical Allele Identifier: CA338234635

Gene: PADI4

Linked Data

• dbSNP Id: rs2074263786
• gnomAD v4: 1-17334009-G-A
• MyVariant Identifiers: chr1:g.17660504G>A (hg19) ; chr1:g.17334009G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.17334009G>A , CM000663.2:g.17334009G>A	GRCh38
NC_000001.10:g.17660504G>A , CM000663.1:g.17660504G>A	GRCh37
NC_000001.9:g.17533091G>A	NCBI36
NG_023261.2:g.30820G>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000375448.4:c.340G>A MANE Select	ENSP00000364597.4:p.Glu114Lys
ENST00000375453.5:c.340G>A	ENSP00000364602.1:p.Asp114Asn
NM_012387.2:c.340G>A	NP_036519.2:p.Glu114Lys
XM_011541150.1:c.340G>A	XP_011539452.1:p.Asp114Asn
XM_011541151.1:c.340G>A	XP_011539453.1:p.Glu114Lys
XM_011541152.1:c.-80G>A	XP_011539454.1:n.-80G>A
XM_011541153.1:c.340G>A	XP_011539455.1:p.Glu114Lys
XM_011541154.1:c.340G>A	XP_011539456.1:p.Glu114Lys
XM_011541155.1:c.340G>A	XP_011539457.1:p.Glu114Lys
XM_011541156.1:c.340G>A	XP_011539458.1:p.Glu114Lys
XM_011541157.1:c.-373G>A	XP_011539459.1:n.-373G>A
XM_011541154.2:c.340G>A	XP_011539456.1:p.Glu114Lys
NM_012387.3:c.340G>A MANE Select	NP_036519.2:p.Glu114Lys