Canonical Allele Identifier: CA338249433

Gene: PADI4

Linked Data

• gnomAD v4: 1-17347942-A-C
• MyVariant Identifiers: chr1:g.17674437A>C (hg19) ; chr1:g.17347942A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.17347942A>C , CM000663.2:g.17347942A>C	GRCh38
NC_000001.10:g.17674437A>C , CM000663.1:g.17674437A>C	GRCh37
NC_000001.9:g.17547024A>C	NCBI36
NG_023261.2:g.44753A>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000375448.4:c.1049A>C MANE Select	ENSP00000364597.4:p.Asp350Ala
ENST00000468945.1:n.108A>C
ENST00000487048.5:n.16A>C
NM_012387.2:c.1049A>C	NP_036519.2:p.Asp350Ala
XM_011541150.1:c.863A>C	XP_011539452.1:p.Asp288Ala
XM_011541151.1:c.1049A>C	XP_011539453.1:p.Asp350Ala
XM_011541152.1:c.512A>C	XP_011539454.1:p.Asp171Ala
XM_011541153.1:c.1049A>C	XP_011539455.1:p.Asp350Ala
XM_011541154.1:c.1049A>C	XP_011539456.1:p.Asp350Ala
XM_011541155.1:c.1049A>C	XP_011539457.1:p.Asp350Ala
XM_011541156.1:c.1049A>C	XP_011539458.1:p.Asp350Ala
XM_011541157.1:c.158A>C	XP_011539459.1:p.Asp53Ala
XM_011541154.2:c.1049A>C	XP_011539456.1:p.Asp350Ala
NM_012387.3:c.1049A>C MANE Select	NP_036519.2:p.Asp350Ala