Canonical Allele Identifier: CA338247229

Gene: PADI4

Linked Data

• gnomAD v4: 1-17346045-A-G
• MyVariant Identifiers: chr1:g.17672540A>G (hg19) ; chr1:g.17346045A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.17346045A>G , CM000663.2:g.17346045A>G	GRCh38
NC_000001.10:g.17672540A>G , CM000663.1:g.17672540A>G	GRCh37
NC_000001.9:g.17545127A>G	NCBI36
NG_023261.2:g.42856A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000375448.4:c.953A>G MANE Select	ENSP00000364597.4:p.Asp318Gly
ENST00000468945.1:n.12A>G
NM_012387.2:c.953A>G	NP_036519.2:p.Asp318Gly
XM_011541150.1:c.767A>G	XP_011539452.1:p.Asp256Gly
XM_011541151.1:c.953A>G	XP_011539453.1:p.Asp318Gly
XM_011541152.1:c.416A>G	XP_011539454.1:p.Asp139Gly
XM_011541153.1:c.953A>G	XP_011539455.1:p.Asp318Gly
XM_011541154.1:c.953A>G	XP_011539456.1:p.Asp318Gly
XM_011541155.1:c.953A>G	XP_011539457.1:p.Asp318Gly
XM_011541156.1:c.953A>G	XP_011539458.1:p.Asp318Gly
XM_011541157.1:c.62A>G	XP_011539459.1:p.Asp21Gly
XM_011541154.2:c.953A>G	XP_011539456.1:p.Asp318Gly
NM_012387.3:c.953A>G MANE Select	NP_036519.2:p.Asp318Gly