Canonical Allele Identifier: CA412334020

Gene: PIGA

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.15321606T>A , CM000685.2:g.15321606T>A	GRCh38
NC_000023.10:g.15339728T>A , CM000685.1:g.15339728T>A	GRCh37
NC_000023.9:g.15249649T>A	NCBI36
NG_009786.1:g.18933A>T , LRG_160:g.18933A>T

Transcript Alleles

HGVS	Amino-acid Change
NM_002641.4:c.1355A>T MANE Select	NP_002632.1:p.Asp452Val
ENST00000333590.6:c.1355A>T MANE Select	ENSP00000369820.3:p.Asp452Val
NM_002641.3:c.1355A>T , LRG_160t1:c.1355A>T	NP_002632.1:p.Asp452Val
NM_020473.3:c.653A>T	NP_065206.3:p.Asp218Val
NR_033835.1:n.1097A>T
NR_033836.1:n.813A>T
ENST00000333590.5:c.1355A>T	ENSP00000369820.3:p.Asp452Val
ENST00000482148.6:c.848A>T	ENSP00000489528.1:p.Asp283Val
ENST00000542278.6:c.1355A>T	ENSP00000442653.2:p.Asp452Val
ENST00000634582.1:c.653A>T	ENSP00000489540.1:p.Asp218Val
ENST00000634640.1:c.410A>T	ENSP00000489083.1:p.Asp137Val
ENST00000635045.1:n.1588A>T
ENST00000635598.1:c.*624A>T	ENSP00000489207.1:n.*624A>T
ENST00000635631.1:n.696A>T
ENST00000637296.1:c.410A>T	ENSP00000490545.1:p.Asp137Val
ENST00000637626.1:c.*836A>T	ENSP00000489928.1:n.*836A>T
ENST00000638131.1:c.*616A>T	ENSP00000490483.1:n.*616A>T
XM_011545539.1:c.662A>T	XP_011543841.1:p.Asp221Val
XM_011545539.2:c.662A>T	XP_011543841.1:p.Asp221Val