Canonical Allele Identifier: CA640770

Gene: PADI4

Linked Data

• dbSNP Id: rs752160274
• ExAC: 1:17674454 T / G
• gnomAD v2: 1-17674454-T-G
• gnomAD v4: 1-17347959-T-G
• MyVariant Identifiers: chr1:g.17674454T>G (hg19) ; chr1:g.17347959T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.17347959T>G , CM000663.2:g.17347959T>G	GRCh38
NC_000001.10:g.17674454T>G , CM000663.1:g.17674454T>G	GRCh37
NC_000001.9:g.17547041T>G	NCBI36
NG_023261.2:g.44770T>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000375448.4:c.1066T>G MANE Select	ENSP00000364597.4:p.Tyr356Asp
ENST00000468945.1:n.125T>G
ENST00000487048.5:n.33T>G
NM_012387.2:c.1066T>G	NP_036519.2:p.Tyr356Asp
XM_011541150.1:c.880T>G	XP_011539452.1:p.Tyr294Asp
XM_011541151.1:c.1066T>G	XP_011539453.1:p.Tyr356Asp
XM_011541152.1:c.529T>G	XP_011539454.1:p.Tyr177Asp
XM_011541153.1:c.1066T>G	XP_011539455.1:p.Tyr356Asp
XM_011541154.1:c.1066T>G	XP_011539456.1:p.Tyr356Asp
XM_011541155.1:c.1066T>G	XP_011539457.1:p.Tyr356Asp
XM_011541156.1:c.1066T>G	XP_011539458.1:p.Tyr356Asp
XM_011541157.1:c.175T>G	XP_011539459.1:p.Tyr59Asp
XM_011541154.2:c.1066T>G	XP_011539456.1:p.Tyr356Asp
NM_012387.3:c.1066T>G MANE Select	NP_036519.2:p.Tyr356Asp