Canonical Allele Identifier: CA338256264
Gene: PADI4 HGNC NCBI

Linked Data

dbSNP Id: rs1339596379
gnomAD v2: 1-17682528-A-T

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