Canonical Allele Identifier: CA412336628

Gene: PIGA

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.15325109C>A , CM000685.2:g.15325109C>A	GRCh38
NC_000023.10:g.15343231C>A , CM000685.1:g.15343231C>A	GRCh37
NC_000023.9:g.15253152C>A	NCBI36
NG_009786.1:g.15430G>T , LRG_160:g.15430G>T

Transcript Alleles

HGVS	Amino-acid Change
NM_002641.4:c.892G>T MANE Select	NP_002632.1:p.Val298Phe
ENST00000333590.6:c.892G>T MANE Select	ENSP00000369820.3:p.Val298Phe
NM_002641.3:c.892G>T , LRG_160t1:c.892G>T	NP_002632.1:p.Val298Phe
NM_020473.3:c.190G>T	NP_065206.3:p.Val64Phe
NR_033835.1:n.634G>T
NR_033836.1:n.350G>T
ENST00000333590.5:c.892G>T	ENSP00000369820.3:p.Val298Phe
ENST00000463173.1:n.164G>T
ENST00000482148.6:c.385G>T	ENSP00000489528.1:p.Val129Phe
ENST00000542278.6:c.892G>T	ENSP00000442653.2:p.Val298Phe
ENST00000634286.1:c.505G>T	ENSP00000489491.1:n.505G>T
ENST00000634582.1:c.190G>T	ENSP00000489540.1:p.Val64Phe
ENST00000634640.1:c.-54G>T	ENSP00000489083.1:n.-54G>T
ENST00000635045.1:n.977G>T
ENST00000635480.1:n.514G>T
ENST00000635598.1:c.*161G>T	ENSP00000489207.1:n.*161G>T
ENST00000635631.1:n.233G>T
ENST00000637296.1:c.-54G>T	ENSP00000490545.1:n.-54G>T
ENST00000637626.1:c.*373G>T	ENSP00000489928.1:n.*373G>T
ENST00000638131.1:c.*153G>T	ENSP00000490483.1:n.*153G>T
XM_011545539.1:c.199G>T	XP_011543841.1:p.Val67Phe
XM_011545539.2:c.199G>T	XP_011543841.1:p.Val67Phe