Canonical Allele Identifier: CA338256264

Gene: PADI4

Linked Data

• dbSNP Id: rs1339596379
• gnomAD v2: 1-17682528-A-T
• MyVariant Identifiers: chr1:g.17682528A>T (hg19) ; chr1:g.17356033A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.17356033A>T , CM000663.2:g.17356033A>T	GRCh38
NC_000001.10:g.17682528A>T , CM000663.1:g.17682528A>T	GRCh37
NC_000001.9:g.17555115A>T	NCBI36
NG_023261.2:g.52844A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000375448.4:c.1361A>T MANE Select	ENSP00000364597.4:p.Gln454Leu
ENST00000467001.1:n.262A>T
ENST00000487048.5:n.328A>T
NM_012387.2:c.1361A>T	NP_036519.2:p.Gln454Leu
XM_011541150.1:c.1175A>T	XP_011539452.1:p.Gln392Leu
XM_011541151.1:c.1156-324A>T	XP_011539453.1:n.1156-324A>T
XM_011541152.1:c.824A>T	XP_011539454.1:p.Gln275Leu
XM_011541154.1:c.*98A>T	XP_011539456.1:n.*98A>T
XM_011541156.1:c.*45A>T	XP_011539458.1:n.*45A>T
XM_011541157.1:c.470A>T	XP_011539459.1:p.Gln157Leu
XM_011541154.2:c.*98A>T	XP_011539456.1:n.*98A>T
NM_012387.3:c.1361A>T MANE Select	NP_036519.2:p.Gln454Leu