Canonical Allele Identifier: CA640476

Gene: PADI4

Linked Data

• dbSNP Id: rs375277347
• ExAC: 1:17662680 C / T
• gnomAD v2: 1-17662680-C-T
• gnomAD v3: 1-17336185-C-T
• gnomAD v4: 1-17336185-C-T
• MyVariant Identifiers: chr1:g.17662680C>T (hg19) ; chr1:g.17336185C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.17336185C>T , CM000663.2:g.17336185C>T	GRCh38
NC_000001.10:g.17662680C>T , CM000663.1:g.17662680C>T	GRCh37
NC_000001.9:g.17535267C>T	NCBI36
NG_023261.2:g.32996C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000375448.4:c.367C>T MANE Select	ENSP00000364597.4:p.Arg123Cys
NM_012387.2:c.367C>T	NP_036519.2:p.Arg123Cys
XM_011541150.1:c.340+2176C>T	XP_011539452.1:n.340+2176C>T
XM_011541151.1:c.367C>T	XP_011539453.1:p.Arg123Cys
XM_011541152.1:c.-53C>T	XP_011539454.1:n.-53C>T
XM_011541153.1:c.367C>T	XP_011539455.1:p.Arg123Cys
XM_011541154.1:c.367C>T	XP_011539456.1:p.Arg123Cys
XM_011541155.1:c.367C>T	XP_011539457.1:p.Arg123Cys
XM_011541156.1:c.367C>T	XP_011539458.1:p.Arg123Cys
XM_011541157.1:c.-346C>T	XP_011539459.1:n.-346C>T
XM_011541154.2:c.367C>T	XP_011539456.1:p.Arg123Cys
NM_012387.3:c.367C>T MANE Select	NP_036519.2:p.Arg123Cys