Canonical Allele Identifier: CA326944455

Gene: PIGA

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.15324506G>A , CM000685.2:g.15324506G>A	GRCh38
NC_000023.10:g.15342628G>A , CM000685.1:g.15342628G>A	GRCh37
NC_000023.9:g.15252549G>A	NCBI36
NG_009786.1:g.16033C>T , LRG_160:g.16033C>T

Transcript Alleles

HGVS	Amino-acid Change
NM_002641.4:c.1188+159C>T MANE Select	NP_002632.1:n.1188+159C>T
ENST00000333590.6:c.1188+159C>T MANE Select	ENSP00000369820.3:n.1188+159C>T
NM_002641.3:c.1188+159C>T , LRG_160t1:c.1188+159C>T	NP_002632.1:n.1188+159C>T
NM_020473.3:c.486+159C>T	NP_065206.3:n.486+159C>T
NR_033835.1:n.930+159C>T
NR_033836.1:n.646+159C>T
ENST00000333590.5:c.1188+159C>T	ENSP00000369820.3:n.1188+159C>T
ENST00000463173.1:n.460+159C>T
ENST00000475746.1:c.81+514C>T	ENSP00000488970.1:n.81+514C>T
ENST00000482148.6:c.681+159C>T	ENSP00000489528.1:n.681+159C>T
ENST00000542278.6:c.1188+159C>T	ENSP00000442653.2:n.1188+159C>T
ENST00000634582.1:c.486+159C>T	ENSP00000489540.1:n.486+159C>T
ENST00000634640.1:c.243+159C>T	ENSP00000489083.1:n.243+159C>T
ENST00000635045.1:n.1421+159C>T
ENST00000635598.1:c.*457+159C>T	ENSP00000489207.1:n.*457+159C>T
ENST00000635631.1:n.529+159C>T
ENST00000637296.1:c.243+159C>T	ENSP00000490545.1:n.243+159C>T
ENST00000637626.1:c.*669+159C>T	ENSP00000489928.1:n.*669+159C>T
ENST00000638131.1:c.*449+159C>T	ENSP00000490483.1:n.*449+159C>T
XM_011545539.1:c.495+159C>T	XP_011543841.1:n.495+159C>T
XM_011545539.2:c.495+159C>T	XP_011543841.1:n.495+159C>T