Canonical Allele Identifier: CA338256270

Gene: PADI4

Linked Data

• MyVariant Identifiers: chr1:g.17682529G>T (hg19) ; chr1:g.17356034G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.17356034G>T , CM000663.2:g.17356034G>T	GRCh38
NC_000001.10:g.17682529G>T , CM000663.1:g.17682529G>T	GRCh37
NC_000001.9:g.17555116G>T	NCBI36
NG_023261.2:g.52845G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000375448.4:c.1362G>T MANE Select	ENSP00000364597.4:p.Gln454His
ENST00000467001.1:n.263G>T
ENST00000487048.5:n.329G>T
NM_012387.2:c.1362G>T	NP_036519.2:p.Gln454His
XM_011541150.1:c.1176G>T	XP_011539452.1:p.Gln392His
XM_011541151.1:c.1156-323G>T	XP_011539453.1:n.1156-323G>T
XM_011541152.1:c.825G>T	XP_011539454.1:p.Gln275His
XM_011541154.1:c.*99G>T	XP_011539456.1:n.*99G>T
XM_011541156.1:c.*46G>T	XP_011539458.1:n.*46G>T
XM_011541157.1:c.471G>T	XP_011539459.1:p.Gln157His
XM_011541154.2:c.*99G>T	XP_011539456.1:n.*99G>T
NM_012387.3:c.1362G>T MANE Select	NP_036519.2:p.Gln454His