Canonical Allele Identifier: CA16609357

Gene: PIGA

Linked Data

• ClinVar Variation Id: 393551
• ClinVar RCV Id: RCV000445622
• dbSNP Id: rs1060499625
• MyVariant Identifiers: chrX:g.15349658G>C (hg19) ; chrX:g.15331536G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.15331536G>C , CM000685.2:g.15331536G>C	GRCh38
NC_000023.10:g.15349658G>C , CM000685.1:g.15349658G>C	GRCh37
NC_000023.9:g.15259579G>C	NCBI36
NG_009786.1:g.9003C>G , LRG_160:g.9003C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000333590.6:c.395C>G MANE Select	ENSP00000369820.3:p.Ser132Cys
ENST00000637296.1:c.-314-237C>G	ENSP00000490545.1:n.-314-237C>G
ENST00000637626.1:c.395C>G	ENSP00000489928.1:p.Ser132Cys
ENST00000638131.1:c.111+284C>G	ENSP00000490483.1:n.111+284C>G
ENST00000333590.5:c.395C>G	ENSP00000369820.3:p.Ser132Cys
ENST00000474662.2:n.142+338C>G
ENST00000482148.6:c.341+54C>G	ENSP00000489528.1:n.341+54C>G
ENST00000542278.6:c.395C>G	ENSP00000442653.2:p.Ser132Cys
ENST00000634286.1:c.134+54C>G	ENSP00000489491.1:n.134+54C>G
ENST00000634582.1:c.13+3965C>G	ENSP00000489540.1:n.13+3965C>G
ENST00000634640.1:c.-231+338C>G	ENSP00000489083.1:n.-231+338C>G
ENST00000635045.1:n.480C>G
ENST00000635543.1:c.395C>G	ENSP00000489205.1:p.Ser132Cys
ENST00000635598.1:c.341+54C>G	ENSP00000489207.1:n.341+54C>G
NM_002641.3:c.395C>G , LRG_160t1:c.395C>G	NP_002632.1:p.Ser132Cys
NM_020473.3:c.13+3965C>G	NP_065206.3:n.13+3965C>G
NR_033835.1:n.457+54C>G
NR_033836.1:n.173+338C>G
NM_002641.4:c.395C>G MANE Select	NP_002632.1:p.Ser132Cys