Canonical Allele Identifier: CA412337086

Gene: PIGA

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.15325926T>G , CM000685.2:g.15325926T>G	GRCh38
NC_000023.10:g.15344048T>G , CM000685.1:g.15344048T>G	GRCh37
NC_000023.9:g.15253969T>G	NCBI36
NG_009786.1:g.14613A>C , LRG_160:g.14613A>C

Transcript Alleles

HGVS	Amino-acid Change
NM_002641.4:c.836A>C MANE Select	NP_002632.1:p.Gln279Pro
ENST00000333590.6:c.836A>C MANE Select	ENSP00000369820.3:p.Gln279Pro
NM_002641.3:c.836A>C , LRG_160t1:c.836A>C	NP_002632.1:p.Gln279Pro
NM_020473.3:c.134A>C	NP_065206.3:p.Gln45Pro
NR_033835.1:n.578A>C
NR_033836.1:n.294A>C
ENST00000333590.5:c.836A>C	ENSP00000369820.3:p.Gln279Pro
ENST00000474662.2:n.263A>C
ENST00000482148.6:c.342-774A>C	ENSP00000489528.1:n.342-774A>C
ENST00000542278.6:c.836A>C	ENSP00000442653.2:p.Gln279Pro
ENST00000634286.1:c.449A>C	ENSP00000489491.1:n.449A>C
ENST00000634582.1:c.134A>C	ENSP00000489540.1:p.Gln45Pro
ENST00000634640.1:c.-110A>C	ENSP00000489083.1:n.-110A>C
ENST00000635045.1:n.921A>C
ENST00000635480.1:n.458A>C
ENST00000635598.1:c.*105A>C	ENSP00000489207.1:n.*105A>C
ENST00000635631.1:n.177A>C
ENST00000637296.1:c.-110A>C	ENSP00000490545.1:n.-110A>C
ENST00000637626.1:c.*317A>C	ENSP00000489928.1:n.*317A>C
ENST00000638131.1:c.*97A>C	ENSP00000490483.1:n.*97A>C
XM_011545539.1:c.143A>C	XP_011543841.1:p.Gln48Pro
XM_011545539.2:c.143A>C	XP_011543841.1:p.Gln48Pro