Canonical Allele Identifier: CA128816

Gene: PIGA

Linked Data - Expert Curation

Linked Data - Variant Effect Evidence

Linked Data - NCBI & NCI

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.15321727G>A , CM000685.2:g.15321727G>A	GRCh38
NC_000023.10:g.15339849G>A , CM000685.1:g.15339849G>A	GRCh37
NC_000023.9:g.15249770G>A	NCBI36
NG_009786.1:g.18812C>T , LRG_160:g.18812C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000333590.6:c.1234C>T MANE Select	ENSP00000369820.3:p.Arg412Ter
ENST00000637296.1:c.289C>T	ENSP00000490545.1:p.Arg97Ter
ENST00000637626.1:c.*715C>T	ENSP00000489928.1:n.*715C>T
ENST00000638131.1:c.*495C>T	ENSP00000490483.1:n.*495C>T
ENST00000333590.5:c.1234C>T	ENSP00000369820.3:p.Arg412Ter
ENST00000463173.1:n.506C>T
ENST00000475746.1:c.127C>T	ENSP00000488970.1:p.Arg43Ter
ENST00000482148.6:c.727C>T	ENSP00000489528.1:p.Arg243Ter
ENST00000542278.6:c.1234C>T	ENSP00000442653.2:p.Arg412Ter
ENST00000634582.1:c.532C>T	ENSP00000489540.1:p.Arg178Ter
ENST00000634640.1:c.289C>T	ENSP00000489083.1:p.Arg97Ter
ENST00000635045.1:n.1467C>T
ENST00000635598.1:c.*503C>T	ENSP00000489207.1:n.*503C>T
ENST00000635631.1:n.575C>T
NM_002641.3:c.1234C>T , LRG_160t1:c.1234C>T	NP_002632.1:p.Arg412Ter
NM_020473.3:c.532C>T	NP_065206.3:p.Arg178Ter
NR_033835.1:n.976C>T
NR_033836.1:n.692C>T
XM_011545539.1:c.541C>T	XP_011543841.1:p.Arg181Ter
XM_011545539.2:c.541C>T	XP_011543841.1:p.Arg181Ter
NM_002641.4:c.1234C>T MANE Select	NP_002632.1:p.Arg412Ter