Canonical Allele Identifier: CA412340268

Gene: PIGA

Linked Data

• MyVariant Identifiers: chrX:g.15349665A>C (hg19) ; chrX:g.15331543A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.15331543A>C , CM000685.2:g.15331543A>C	GRCh38
NC_000023.10:g.15349665A>C , CM000685.1:g.15349665A>C	GRCh37
NC_000023.9:g.15259586A>C	NCBI36
NG_009786.1:g.8996T>G , LRG_160:g.8996T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000333590.6:c.388T>G MANE Select	ENSP00000369820.3:p.Ser130Ala
ENST00000637296.1:c.-314-244T>G	ENSP00000490545.1:n.-314-244T>G
ENST00000637626.1:c.388T>G	ENSP00000489928.1:p.Ser130Ala
ENST00000638131.1:c.111+277T>G	ENSP00000490483.1:n.111+277T>G
ENST00000333590.5:c.388T>G	ENSP00000369820.3:p.Ser130Ala
ENST00000474662.2:n.142+331T>G
ENST00000482148.6:c.341+47T>G	ENSP00000489528.1:n.341+47T>G
ENST00000542278.6:c.388T>G	ENSP00000442653.2:p.Ser130Ala
ENST00000634286.1:c.134+47T>G	ENSP00000489491.1:n.134+47T>G
ENST00000634582.1:c.13+3958T>G	ENSP00000489540.1:n.13+3958T>G
ENST00000634640.1:c.-231+331T>G	ENSP00000489083.1:n.-231+331T>G
ENST00000635045.1:n.473T>G
ENST00000635543.1:c.388T>G	ENSP00000489205.1:p.Ser130Ala
ENST00000635598.1:c.341+47T>G	ENSP00000489207.1:n.341+47T>G
NM_002641.3:c.388T>G , LRG_160t1:c.388T>G	NP_002632.1:p.Ser130Ala
NM_020473.3:c.13+3958T>G	NP_065206.3:n.13+3958T>G
NR_033835.1:n.457+47T>G
NR_033836.1:n.173+331T>G
NM_002641.4:c.388T>G MANE Select	NP_002632.1:p.Ser130Ala