Canonical Allele Identifier: CA412340254

Gene: PIGA

Linked Data

• ClinVar Variation Id: 1029614
• ClinVar RCV Id: RCV001330948
• dbSNP Id: rs1922155142
• MyVariant Identifiers: chrX:g.15349661A>T (hg19) ; chrX:g.15331539A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.15331539A>T , CM000685.2:g.15331539A>T	GRCh38
NC_000023.10:g.15349661A>T , CM000685.1:g.15349661A>T	GRCh37
NC_000023.9:g.15259582A>T	NCBI36
NG_009786.1:g.9000T>A , LRG_160:g.9000T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000333590.6:c.392T>A MANE Select	ENSP00000369820.3:p.Phe131Tyr
ENST00000637296.1:c.-314-240T>A	ENSP00000490545.1:n.-314-240T>A
ENST00000637626.1:c.392T>A	ENSP00000489928.1:p.Phe131Tyr
ENST00000638131.1:c.111+281T>A	ENSP00000490483.1:n.111+281T>A
ENST00000333590.5:c.392T>A	ENSP00000369820.3:p.Phe131Tyr
ENST00000474662.2:n.142+335T>A
ENST00000482148.6:c.341+51T>A	ENSP00000489528.1:n.341+51T>A
ENST00000542278.6:c.392T>A	ENSP00000442653.2:p.Phe131Tyr
ENST00000634286.1:c.134+51T>A	ENSP00000489491.1:n.134+51T>A
ENST00000634582.1:c.13+3962T>A	ENSP00000489540.1:n.13+3962T>A
ENST00000634640.1:c.-231+335T>A	ENSP00000489083.1:n.-231+335T>A
ENST00000635045.1:n.477T>A
ENST00000635543.1:c.392T>A	ENSP00000489205.1:p.Phe131Tyr
ENST00000635598.1:c.341+51T>A	ENSP00000489207.1:n.341+51T>A
NM_002641.3:c.392T>A , LRG_160t1:c.392T>A	NP_002632.1:p.Phe131Tyr
NM_020473.3:c.13+3962T>A	NP_065206.3:n.13+3962T>A
NR_033835.1:n.457+51T>A
NR_033836.1:n.173+335T>A
NM_002641.4:c.392T>A MANE Select	NP_002632.1:p.Phe131Tyr