Canonical Allele Identifier: CA338256250

Gene: PADI4

Linked Data

• MyVariant Identifiers: chr1:g.17682527C>A (hg19) ; chr1:g.17356032C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.17356032C>A , CM000663.2:g.17356032C>A	GRCh38
NC_000001.10:g.17682527C>A , CM000663.1:g.17682527C>A	GRCh37
NC_000001.9:g.17555114C>A	NCBI36
NG_023261.2:g.52843C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000375448.4:c.1360C>A MANE Select	ENSP00000364597.4:p.Gln454Lys
ENST00000467001.1:n.261C>A
ENST00000487048.5:n.327C>A
NM_012387.2:c.1360C>A	NP_036519.2:p.Gln454Lys
XM_011541150.1:c.1174C>A	XP_011539452.1:p.Gln392Lys
XM_011541151.1:c.1156-325C>A	XP_011539453.1:n.1156-325C>A
XM_011541152.1:c.823C>A	XP_011539454.1:p.Gln275Lys
XM_011541154.1:c.*97C>A	XP_011539456.1:n.*97C>A
XM_011541156.1:c.*44C>A	XP_011539458.1:n.*44C>A
XM_011541157.1:c.469C>A	XP_011539459.1:p.Gln157Lys
XM_011541154.2:c.*97C>A	XP_011539456.1:n.*97C>A
NM_012387.3:c.1360C>A MANE Select	NP_036519.2:p.Gln454Lys