Canonical Allele Identifier: CA338249429

Gene: PADI4

Linked Data

• gnomAD v4: 1-17347941-G-C
• MyVariant Identifiers: chr1:g.17674436G>C (hg19) ; chr1:g.17347941G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.17347941G>C , CM000663.2:g.17347941G>C	GRCh38
NC_000001.10:g.17674436G>C , CM000663.1:g.17674436G>C	GRCh37
NC_000001.9:g.17547023G>C	NCBI36
NG_023261.2:g.44752G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000375448.4:c.1048G>C MANE Select	ENSP00000364597.4:p.Asp350His
ENST00000468945.1:n.107G>C
ENST00000487048.5:n.15G>C
NM_012387.2:c.1048G>C	NP_036519.2:p.Asp350His
XM_011541150.1:c.862G>C	XP_011539452.1:p.Asp288His
XM_011541151.1:c.1048G>C	XP_011539453.1:p.Asp350His
XM_011541152.1:c.511G>C	XP_011539454.1:p.Asp171His
XM_011541153.1:c.1048G>C	XP_011539455.1:p.Asp350His
XM_011541154.1:c.1048G>C	XP_011539456.1:p.Asp350His
XM_011541155.1:c.1048G>C	XP_011539457.1:p.Asp350His
XM_011541156.1:c.1048G>C	XP_011539458.1:p.Asp350His
XM_011541157.1:c.157G>C	XP_011539459.1:p.Asp53His
XM_011541154.2:c.1048G>C	XP_011539456.1:p.Asp350His
NM_012387.3:c.1048G>C MANE Select	NP_036519.2:p.Asp350His