Canonical Allele Identifier: CA120841

Gene: PIGA

Linked Data

• ClinVar Variation Id: 9958
• ClinVar RCV Id: RCV001799595 ; RCV002460890
• dbSNP Id: rs199422232
• MyVariant Identifiers: chrX:g.15349759G>T (hg19) ; chrX:g.15331637G>T (hg38)
• PubMed: PMID:8557259 ; PMID:9019395 ; PMID:10220445

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.15331637G>T , CM000685.2:g.15331637G>T	GRCh38
NC_000023.10:g.15349759G>T , CM000685.1:g.15349759G>T	GRCh37
NC_000023.9:g.15259680G>T	NCBI36
NG_009786.1:g.8902C>A , LRG_160:g.8902C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000333590.6:c.294C>A MANE Select	ENSP00000369820.3:p.Tyr98Ter
ENST00000637296.1:c.-315+237C>A	ENSP00000490545.1:n.-315+237C>A
ENST00000637626.1:c.294C>A	ENSP00000489928.1:p.Tyr98Ter
ENST00000638131.1:c.111+183C>A	ENSP00000490483.1:n.111+183C>A
ENST00000333590.5:c.294C>A	ENSP00000369820.3:p.Tyr98Ter
ENST00000474662.2:n.142+237C>A
ENST00000482148.6:c.294C>A	ENSP00000489528.1:p.Tyr98Ter
ENST00000542278.6:c.294C>A	ENSP00000442653.2:p.Tyr98Ter
ENST00000634286.1:c.87C>A	ENSP00000489491.1:p.Tyr29Ter
ENST00000634582.1:c.13+3864C>A	ENSP00000489540.1:n.13+3864C>A
ENST00000634640.1:c.-231+237C>A	ENSP00000489083.1:n.-231+237C>A
ENST00000635045.1:n.379C>A
ENST00000635543.1:c.294C>A	ENSP00000489205.1:p.Tyr98Ter
ENST00000635598.1:c.294C>A	ENSP00000489207.1:p.Tyr98Ter
NM_002641.3:c.294C>A , LRG_160t1:c.294C>A	NP_002632.1:p.Tyr98Ter
NM_020473.3:c.13+3864C>A	NP_065206.3:n.13+3864C>A
NR_033835.1:n.410C>A
NR_033836.1:n.173+237C>A
NM_002641.4:c.294C>A MANE Select	NP_002632.1:p.Tyr98Ter