Canonical Allele Identifier: CA338256274

Gene: PADI4

Linked Data

• gnomAD v4: 1-17356035-C-G
• MyVariant Identifiers: chr1:g.17682530C>G (hg19) ; chr1:g.17356035C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.17356035C>G , CM000663.2:g.17356035C>G	GRCh38
NC_000001.10:g.17682530C>G , CM000663.1:g.17682530C>G	GRCh37
NC_000001.9:g.17555117C>G	NCBI36
NG_023261.2:g.52846C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000375448.4:c.1363C>G MANE Select	ENSP00000364597.4:p.Gln455Glu
ENST00000467001.1:n.264C>G
ENST00000487048.5:n.330C>G
NM_012387.2:c.1363C>G	NP_036519.2:p.Gln455Glu
XM_011541150.1:c.1177C>G	XP_011539452.1:p.Gln393Glu
XM_011541151.1:c.1156-322C>G	XP_011539453.1:n.1156-322C>G
XM_011541152.1:c.826C>G	XP_011539454.1:p.Gln276Glu
XM_011541154.1:c.*100C>G	XP_011539456.1:n.*100C>G
XM_011541156.1:c.*47C>G	XP_011539458.1:n.*47C>G
XM_011541157.1:c.472C>G	XP_011539459.1:p.Gln158Glu
XM_011541154.2:c.*100C>G	XP_011539456.1:n.*100C>G
NM_012387.3:c.1363C>G MANE Select	NP_036519.2:p.Gln455Glu