Canonical Allele Identifier: CA412340919

Gene: PIGA

Linked Data

• MyVariant Identifiers: chrX:g.15349805A>C (hg19) ; chrX:g.15331683A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.15331683A>C , CM000685.2:g.15331683A>C	GRCh38
NC_000023.10:g.15349805A>C , CM000685.1:g.15349805A>C	GRCh37
NC_000023.9:g.15259726A>C	NCBI36
NG_009786.1:g.8856T>G , LRG_160:g.8856T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000333590.6:c.248T>G MANE Select	ENSP00000369820.3:p.Leu83Arg
ENST00000637296.1:c.-315+191T>G	ENSP00000490545.1:n.-315+191T>G
ENST00000637626.1:c.248T>G	ENSP00000489928.1:p.Leu83Arg
ENST00000638131.1:c.111+137T>G	ENSP00000490483.1:n.111+137T>G
ENST00000333590.5:c.248T>G	ENSP00000369820.3:p.Leu83Arg
ENST00000474662.2:n.142+191T>G
ENST00000482148.6:c.248T>G	ENSP00000489528.1:p.Leu83Arg
ENST00000542278.6:c.248T>G	ENSP00000442653.2:p.Leu83Arg
ENST00000634286.1:c.41T>G	ENSP00000489491.1:p.Leu14Arg
ENST00000634582.1:c.13+3818T>G	ENSP00000489540.1:n.13+3818T>G
ENST00000634640.1:c.-231+191T>G	ENSP00000489083.1:n.-231+191T>G
ENST00000635045.1:n.333T>G
ENST00000635543.1:c.248T>G	ENSP00000489205.1:p.Leu83Arg
ENST00000635598.1:c.248T>G	ENSP00000489207.1:p.Leu83Arg
NM_002641.3:c.248T>G , LRG_160t1:c.248T>G	NP_002632.1:p.Leu83Arg
NM_020473.3:c.13+3818T>G	NP_065206.3:n.13+3818T>G
NR_033835.1:n.364T>G
NR_033836.1:n.173+191T>G
NM_002641.4:c.248T>G MANE Select	NP_002632.1:p.Leu83Arg