Canonical Allele Identifier: CA412337125

Gene: PIGA

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.15325931T>G , CM000685.2:g.15325931T>G	GRCh38
NC_000023.10:g.15344053T>G , CM000685.1:g.15344053T>G	GRCh37
NC_000023.9:g.15253974T>G	NCBI36
NG_009786.1:g.14608A>C , LRG_160:g.14608A>C

Transcript Alleles

HGVS	Amino-acid Change
NM_002641.4:c.831A>C MANE Select	NP_002632.1:p.Arg277Ser
ENST00000333590.6:c.831A>C MANE Select	ENSP00000369820.3:p.Arg277Ser
NM_002641.3:c.831A>C , LRG_160t1:c.831A>C	NP_002632.1:p.Arg277Ser
NM_020473.3:c.129A>C	NP_065206.3:p.Arg43Ser
NR_033835.1:n.573A>C
NR_033836.1:n.289A>C
ENST00000333590.5:c.831A>C	ENSP00000369820.3:p.Arg277Ser
ENST00000474662.2:n.258A>C
ENST00000482148.6:c.342-779A>C	ENSP00000489528.1:n.342-779A>C
ENST00000542278.6:c.831A>C	ENSP00000442653.2:p.Arg277Ser
ENST00000634286.1:c.444A>C	ENSP00000489491.1:n.444A>C
ENST00000634582.1:c.129A>C	ENSP00000489540.1:p.Arg43Ser
ENST00000634640.1:c.-115A>C	ENSP00000489083.1:n.-115A>C
ENST00000635045.1:n.916A>C
ENST00000635480.1:n.453A>C
ENST00000635598.1:c.*100A>C	ENSP00000489207.1:n.*100A>C
ENST00000635631.1:n.172A>C
ENST00000637296.1:c.-115A>C	ENSP00000490545.1:n.-115A>C
ENST00000637626.1:c.*312A>C	ENSP00000489928.1:n.*312A>C
ENST00000638131.1:c.*92A>C	ENSP00000490483.1:n.*92A>C
XM_011545539.1:c.138A>C	XP_011543841.1:p.Arg46Ser
XM_011545539.2:c.138A>C	XP_011543841.1:p.Arg46Ser