Canonical Allele Identifier: CA338256317

Gene: PADI4

Linked Data

• MyVariant Identifiers: chr1:g.17682534T>C (hg19) ; chr1:g.17356039T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.17356039T>C , CM000663.2:g.17356039T>C	GRCh38
NC_000001.10:g.17682534T>C , CM000663.1:g.17682534T>C	GRCh37
NC_000001.9:g.17555121T>C	NCBI36
NG_023261.2:g.52850T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000375448.4:c.1367T>C MANE Select	ENSP00000364597.4:p.Val456Ala
ENST00000467001.1:n.268T>C
ENST00000487048.5:n.334T>C
NM_012387.2:c.1367T>C	NP_036519.2:p.Val456Ala
XM_011541150.1:c.1181T>C	XP_011539452.1:p.Val394Ala
XM_011541151.1:c.1156-318T>C	XP_011539453.1:n.1156-318T>C
XM_011541152.1:c.830T>C	XP_011539454.1:p.Val277Ala
XM_011541154.1:c.*104T>C	XP_011539456.1:n.*104T>C
XM_011541156.1:c.*51T>C	XP_011539458.1:n.*51T>C
XM_011541157.1:c.476T>C	XP_011539459.1:p.Val159Ala
XM_011541154.2:c.*104T>C	XP_011539456.1:n.*104T>C
NM_012387.3:c.1367T>C MANE Select	NP_036519.2:p.Val456Ala