Canonical Allele Identifier: CA16609132

Gene: PIGA

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.15325939G>A , CM000685.2:g.15325939G>A	GRCh38
NC_000023.10:g.15344061G>A , CM000685.1:g.15344061G>A	GRCh37
NC_000023.9:g.15253982G>A	NCBI36
NG_009786.1:g.14600C>T , LRG_160:g.14600C>T

Transcript Alleles

HGVS	Amino-acid Change
NM_002641.4:c.823C>T MANE Select	NP_002632.1:p.Arg275Trp
ENST00000333590.6:c.823C>T MANE Select	ENSP00000369820.3:p.Arg275Trp
NM_002641.3:c.823C>T , LRG_160t1:c.823C>T	NP_002632.1:p.Arg275Trp
NM_020473.3:c.121C>T	NP_065206.3:p.Arg41Trp
NR_033835.1:n.565C>T
NR_033836.1:n.281C>T
ENST00000333590.5:c.823C>T	ENSP00000369820.3:p.Arg275Trp
ENST00000474662.2:n.250C>T
ENST00000482148.6:c.342-787C>T	ENSP00000489528.1:n.342-787C>T
ENST00000542278.6:c.823C>T	ENSP00000442653.2:p.Arg275Trp
ENST00000634286.1:c.436C>T	ENSP00000489491.1:n.436C>T
ENST00000634582.1:c.121C>T	ENSP00000489540.1:p.Arg41Trp
ENST00000634640.1:c.-123C>T	ENSP00000489083.1:n.-123C>T
ENST00000635045.1:n.908C>T
ENST00000635480.1:n.445C>T
ENST00000635598.1:c.*92C>T	ENSP00000489207.1:n.*92C>T
ENST00000635631.1:n.164C>T
ENST00000637296.1:c.-123C>T	ENSP00000490545.1:n.-123C>T
ENST00000637626.1:c.*304C>T	ENSP00000489928.1:n.*304C>T
ENST00000638131.1:c.*84C>T	ENSP00000490483.1:n.*84C>T
XM_011545539.1:c.130C>T	XP_011543841.1:p.Arg44Trp
XM_011545539.2:c.130C>T	XP_011543841.1:p.Arg44Trp