Canonical Allele Identifier: CA2693153760

Gene: PIGA

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.15325829A>G , CM000685.2:g.15325829A>G	GRCh38
NC_000023.10:g.15343951A>G , CM000685.1:g.15343951A>G	GRCh37
NC_000023.9:g.15253872A>G	NCBI36
NG_009786.1:g.14710T>C , LRG_160:g.14710T>C

Transcript Alleles

HGVS	Amino-acid Change
NM_002641.4:c.848+85T>C MANE Select	NP_002632.1:n.848+85T>C
ENST00000333590.6:c.848+85T>C MANE Select	ENSP00000369820.3:n.848+85T>C
NM_002641.3:c.848+85T>C , LRG_160t1:c.848+85T>C	NP_002632.1:n.848+85T>C
NM_020473.3:c.146+85T>C	NP_065206.3:n.146+85T>C
NR_033835.1:n.590+85T>C
NR_033836.1:n.306+85T>C
ENST00000333590.5:c.848+85T>C	ENSP00000369820.3:n.848+85T>C
ENST00000474662.2:n.360T>C
ENST00000482148.6:c.342-677T>C	ENSP00000489528.1:n.342-677T>C
ENST00000542278.6:c.848+85T>C	ENSP00000442653.2:n.848+85T>C
ENST00000634286.1:c.461+85T>C	ENSP00000489491.1:n.461+85T>C
ENST00000634582.1:c.146+85T>C	ENSP00000489540.1:n.146+85T>C
ENST00000634640.1:c.-98+85T>C	ENSP00000489083.1:n.-98+85T>C
ENST00000635045.1:n.933+85T>C
ENST00000635480.1:n.470+85T>C
ENST00000635598.1:c.*117+85T>C	ENSP00000489207.1:n.*117+85T>C
ENST00000635631.1:n.189+85T>C
ENST00000637296.1:c.-98+85T>C	ENSP00000490545.1:n.-98+85T>C
ENST00000637626.1:c.*329+85T>C	ENSP00000489928.1:n.*329+85T>C
ENST00000638131.1:c.*109+85T>C	ENSP00000490483.1:n.*109+85T>C
XM_011545539.1:c.155+85T>C	XP_011543841.1:n.155+85T>C
XM_011545539.2:c.155+85T>C	XP_011543841.1:n.155+85T>C