Canonical Allele Identifier: CA640472

Gene: PADI4

Linked Data

• dbSNP Id: rs762366138
• ExAC: 1:17662655 A / C
• gnomAD v2: 1-17662655-A-C
• gnomAD v4: 1-17336160-A-C
• MyVariant Identifiers: chr1:g.17662655A>C (hg19) ; chr1:g.17336160A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.17336160A>C , CM000663.2:g.17336160A>C	GRCh38
NC_000001.10:g.17662655A>C , CM000663.1:g.17662655A>C	GRCh37
NC_000001.9:g.17535242A>C	NCBI36
NG_023261.2:g.32971A>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000375448.4:c.342A>C MANE Select	ENSP00000364597.4:p.Glu114Asp
NM_012387.2:c.342A>C	NP_036519.2:p.Glu114Asp
XM_011541150.1:c.340+2151A>C	XP_011539452.1:n.340+2151A>C
XM_011541151.1:c.342A>C	XP_011539453.1:p.Glu114Asp
XM_011541152.1:c.-78A>C	XP_011539454.1:n.-78A>C
XM_011541153.1:c.342A>C	XP_011539455.1:p.Glu114Asp
XM_011541154.1:c.342A>C	XP_011539456.1:p.Glu114Asp
XM_011541155.1:c.342A>C	XP_011539457.1:p.Glu114Asp
XM_011541156.1:c.342A>C	XP_011539458.1:p.Glu114Asp
XM_011541157.1:c.-371A>C	XP_011539459.1:n.-371A>C
XM_011541154.2:c.342A>C	XP_011539456.1:p.Glu114Asp
NM_012387.3:c.342A>C MANE Select	NP_036519.2:p.Glu114Asp