Canonical Allele Identifier: CA18633108

Gene: PADI4

Linked Data

• dbSNP Id: rs760231903
• gnomAD v2: 1-17657619-C-T
• gnomAD v3: 1-17331124-C-T
• gnomAD v4: 1-17331124-C-T
• MyVariant Identifiers: chr1:g.17657619C>T (hg19) ; chr1:g.17331124C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.17331124C>T , CM000663.2:g.17331124C>T	GRCh38
NC_000001.10:g.17657619C>T , CM000663.1:g.17657619C>T	GRCh37
NC_000001.9:g.17530206C>T	NCBI36
NG_023261.2:g.27935C>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000375448.4:c.248C>T MANE Select	ENSP00000364597.4:p.Ala83Val
ENST00000375453.5:c.248C>T	ENSP00000364602.1:p.Ala83Val
ENST00000624583.1:c.166+507G>A	ENSP00000485570.1:n.166+507G>A
NM_012387.2:c.248C>T	NP_036519.2:p.Ala83Val
XM_011541150.1:c.248C>T	XP_011539452.1:p.Ala83Val
XM_011541151.1:c.248C>T	XP_011539453.1:p.Ala83Val
XM_011541153.1:c.248C>T	XP_011539455.1:p.Ala83Val
XM_011541154.1:c.248C>T	XP_011539456.1:p.Ala83Val
XM_011541155.1:c.248C>T	XP_011539457.1:p.Ala83Val
XM_011541156.1:c.248C>T	XP_011539458.1:p.Ala83Val
XM_011541154.2:c.248C>T	XP_011539456.1:p.Ala83Val
NM_012387.3:c.248C>T MANE Select	NP_036519.2:p.Ala83Val