Canonical Allele Identifier: CA18635754

Gene: PADI4

Linked Data

• dbSNP Id: rs532530836
• gnomAD v2: 1-17660687-C-T
• gnomAD v3: 1-17334192-C-T
• gnomAD v4: 1-17334192-C-T
• MyVariant Identifiers: chr1:g.17660687C>T (hg19) ; chr1:g.17334192C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.17334192C>T , CM000663.2:g.17334192C>T	GRCh38
NC_000001.10:g.17660687C>T , CM000663.1:g.17660687C>T	GRCh37
NC_000001.9:g.17533274C>T	NCBI36
NG_023261.2:g.31003C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000375448.4:c.340+183C>T MANE Select	ENSP00000364597.4:n.340+183C>T
ENST00000375453.5:c.341-132C>T	ENSP00000364602.1:n.341-132C>T
NM_012387.2:c.340+183C>T	NP_036519.2:n.340+183C>T
XM_011541150.1:c.340+183C>T	XP_011539452.1:n.340+183C>T
XM_011541151.1:c.340+183C>T	XP_011539453.1:n.340+183C>T
XM_011541152.1:c.-80+183C>T	XP_011539454.1:n.-80+183C>T
XM_011541153.1:c.340+183C>T	XP_011539455.1:n.340+183C>T
XM_011541154.1:c.340+183C>T	XP_011539456.1:n.340+183C>T
XM_011541155.1:c.340+183C>T	XP_011539457.1:n.340+183C>T
XM_011541156.1:c.340+183C>T	XP_011539458.1:n.340+183C>T
XM_011541157.1:c.-373+183C>T	XP_011539459.1:n.-373+183C>T
XM_011541154.2:c.340+183C>T	XP_011539456.1:n.340+183C>T
NM_012387.3:c.340+183C>T MANE Select	NP_036519.2:n.340+183C>T