Canonical Allele Identifier: CA338256208

Gene: PADI4

Linked Data

• MyVariant Identifiers: chr1:g.17682522G>A (hg19) ; chr1:g.17356027G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.17356027G>A , CM000663.2:g.17356027G>A	GRCh38
NC_000001.10:g.17682522G>A , CM000663.1:g.17682522G>A	GRCh37
NC_000001.9:g.17555109G>A	NCBI36
NG_023261.2:g.52838G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000375448.4:c.1355G>A MANE Select	ENSP00000364597.4:p.Ser452Asn
ENST00000467001.1:n.256G>A
ENST00000487048.5:n.322G>A
NM_012387.2:c.1355G>A	NP_036519.2:p.Ser452Asn
XM_011541150.1:c.1169G>A	XP_011539452.1:p.Ser390Asn
XM_011541151.1:c.1156-330G>A	XP_011539453.1:n.1156-330G>A
XM_011541152.1:c.818G>A	XP_011539454.1:p.Ser273Asn
XM_011541154.1:c.*92G>A	XP_011539456.1:n.*92G>A
XM_011541156.1:c.*39G>A	XP_011539458.1:n.*39G>A
XM_011541157.1:c.464G>A	XP_011539459.1:p.Ser155Asn
XM_011541154.2:c.*92G>A	XP_011539456.1:n.*92G>A
NM_012387.3:c.1355G>A MANE Select	NP_036519.2:p.Ser452Asn