Canonical Allele Identifier: CA338247212

Gene: PADI4

Linked Data

• MyVariant Identifiers: chr1:g.17672537A>C (hg19) ; chr1:g.17346042A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.17346042A>C , CM000663.2:g.17346042A>C	GRCh38
NC_000001.10:g.17672537A>C , CM000663.1:g.17672537A>C	GRCh37
NC_000001.9:g.17545124A>C	NCBI36
NG_023261.2:g.42853A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000375448.4:c.950A>C MANE Select	ENSP00000364597.4:p.Glu317Ala
ENST00000468945.1:n.9A>C
NM_012387.2:c.950A>C	NP_036519.2:p.Glu317Ala
XM_011541150.1:c.764A>C	XP_011539452.1:p.Glu255Ala
XM_011541151.1:c.950A>C	XP_011539453.1:p.Glu317Ala
XM_011541152.1:c.413A>C	XP_011539454.1:p.Glu138Ala
XM_011541153.1:c.950A>C	XP_011539455.1:p.Glu317Ala
XM_011541154.1:c.950A>C	XP_011539456.1:p.Glu317Ala
XM_011541155.1:c.950A>C	XP_011539457.1:p.Glu317Ala
XM_011541156.1:c.950A>C	XP_011539458.1:p.Glu317Ala
XM_011541157.1:c.59A>C	XP_011539459.1:p.Glu20Ala
XM_011541154.2:c.950A>C	XP_011539456.1:p.Glu317Ala
NM_012387.3:c.950A>C MANE Select	NP_036519.2:p.Glu317Ala