Canonical Allele Identifier: CA18635370

Gene: PADI4

Linked Data

• dbSNP Id: rs982808567
• gnomAD v4: 1-17333985-G-T
• MyVariant Identifiers: chr1:g.17660480G>T (hg19) ; chr1:g.17333985G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.17333985G>T , CM000663.2:g.17333985G>T	GRCh38
NC_000001.10:g.17660480G>T , CM000663.1:g.17660480G>T	GRCh37
NC_000001.9:g.17533067G>T	NCBI36
NG_023261.2:g.30796G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000375448.4:c.316G>T MANE Select	ENSP00000364597.4:p.Ala106Ser
ENST00000375453.5:c.316G>T	ENSP00000364602.1:p.Ala106Ser
NM_012387.2:c.316G>T	NP_036519.2:p.Ala106Ser
XM_011541150.1:c.316G>T	XP_011539452.1:p.Ala106Ser
XM_011541151.1:c.316G>T	XP_011539453.1:p.Ala106Ser
XM_011541153.1:c.316G>T	XP_011539455.1:p.Ala106Ser
XM_011541154.1:c.316G>T	XP_011539456.1:p.Ala106Ser
XM_011541155.1:c.316G>T	XP_011539457.1:p.Ala106Ser
XM_011541156.1:c.316G>T	XP_011539458.1:p.Ala106Ser
XM_011541157.1:c.-397G>T	XP_011539459.1:n.-397G>T
XM_011541154.2:c.316G>T	XP_011539456.1:p.Ala106Ser
NM_012387.3:c.316G>T MANE Select	NP_036519.2:p.Ala106Ser