Canonical Allele Identifier: CA326944465

Gene: PIGA

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.15324791A>G , CM000685.2:g.15324791A>G	GRCh38
NC_000023.10:g.15342913A>G , CM000685.1:g.15342913A>G	GRCh37
NC_000023.9:g.15252834A>G	NCBI36
NG_009786.1:g.15748T>C , LRG_160:g.15748T>C

Transcript Alleles

HGVS	Amino-acid Change
NM_002641.4:c.1062T>C MANE Select	NP_002632.1:p.Ser354=
ENST00000333590.6:c.1062T>C MANE Select	ENSP00000369820.3:p.Ser354=
NM_002641.3:c.1062T>C , LRG_160t1:c.1062T>C	NP_002632.1:p.Ser354=
NM_020473.3:c.360T>C	NP_065206.3:p.Ser120=
NR_033835.1:n.804T>C
NR_033836.1:n.520T>C
ENST00000333590.5:c.1062T>C	ENSP00000369820.3:p.Ser354=
ENST00000463173.1:n.334T>C
ENST00000475746.1:c.81+229T>C	ENSP00000488970.1:n.81+229T>C
ENST00000482148.6:c.555T>C	ENSP00000489528.1:p.Ser185=
ENST00000542278.6:c.1062T>C	ENSP00000442653.2:p.Ser354=
ENST00000634286.1:c.675T>C	ENSP00000489491.1:n.675T>C
ENST00000634582.1:c.360T>C	ENSP00000489540.1:p.Ser120=
ENST00000634640.1:c.117T>C	ENSP00000489083.1:p.Ser39=
ENST00000635045.1:n.1295T>C
ENST00000635480.1:n.684T>C
ENST00000635598.1:c.*331T>C	ENSP00000489207.1:n.*331T>C
ENST00000635631.1:n.403T>C
ENST00000637296.1:c.117T>C	ENSP00000490545.1:p.Ser39=
ENST00000637626.1:c.*543T>C	ENSP00000489928.1:n.*543T>C
ENST00000638131.1:c.*323T>C	ENSP00000490483.1:n.*323T>C
XM_011545539.1:c.369T>C	XP_011543841.1:p.Ser123=
XM_011545539.2:c.369T>C	XP_011543841.1:p.Ser123=