Canonical Allele Identifier: CA338256249

Gene: PADI4

Linked Data

• dbSNP Id: rs1170103074
• gnomAD v3: 1-17356030-C-A
• gnomAD v4: 1-17356030-C-A
• MyVariant Identifiers: chr1:g.17682525C>A (hg19) ; chr1:g.17356030C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.17356030C>A , CM000663.2:g.17356030C>A	GRCh38
NC_000001.10:g.17682525C>A , CM000663.1:g.17682525C>A	GRCh37
NC_000001.9:g.17555112C>A	NCBI36
NG_023261.2:g.52841C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000375448.4:c.1358C>A MANE Select	ENSP00000364597.4:p.Ala453Asp
ENST00000467001.1:n.259C>A
ENST00000487048.5:n.325C>A
NM_012387.2:c.1358C>A	NP_036519.2:p.Ala453Asp
XM_011541150.1:c.1172C>A	XP_011539452.1:p.Ala391Asp
XM_011541151.1:c.1156-327C>A	XP_011539453.1:n.1156-327C>A
XM_011541152.1:c.821C>A	XP_011539454.1:p.Ala274Asp
XM_011541154.1:c.*95C>A	XP_011539456.1:n.*95C>A
XM_011541156.1:c.*42C>A	XP_011539458.1:n.*42C>A
XM_011541157.1:c.467C>A	XP_011539459.1:p.Ala156Asp
XM_011541154.2:c.*95C>A	XP_011539456.1:n.*95C>A
NM_012387.3:c.1358C>A MANE Select	NP_036519.2:p.Ala453Asp