Canonical Allele Identifier: CA412339584

Gene: PIGA

Linked Data

• ClinVar Variation Id: 574958
• ClinVar RCV Id: RCV000697028
• dbSNP Id: rs1569179975
• MyVariant Identifiers: chrX:g.15349572C>A (hg19) ; chrX:g.15331450C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.15331450C>A , CM000685.2:g.15331450C>A	GRCh38
NC_000023.10:g.15349572C>A , CM000685.1:g.15349572C>A	GRCh37
NC_000023.9:g.15259493C>A	NCBI36
NG_009786.1:g.9089G>T , LRG_160:g.9089G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000333590.6:c.481G>T MANE Select	ENSP00000369820.3:p.Asp161Tyr
ENST00000637296.1:c.-314-151G>T	ENSP00000490545.1:n.-314-151G>T
ENST00000637626.1:c.481G>T	ENSP00000489928.1:p.Asp161Tyr
ENST00000638131.1:c.111+370G>T	ENSP00000490483.1:n.111+370G>T
ENST00000333590.5:c.481G>T	ENSP00000369820.3:p.Asp161Tyr
ENST00000474662.2:n.142+424G>T
ENST00000482148.6:c.341+140G>T	ENSP00000489528.1:n.341+140G>T
ENST00000542278.6:c.481G>T	ENSP00000442653.2:p.Asp161Tyr
ENST00000634286.1:c.134+140G>T	ENSP00000489491.1:n.134+140G>T
ENST00000634582.1:c.13+4051G>T	ENSP00000489540.1:n.13+4051G>T
ENST00000634640.1:c.-231+424G>T	ENSP00000489083.1:n.-231+424G>T
ENST00000635045.1:n.566G>T
ENST00000635598.1:c.341+140G>T	ENSP00000489207.1:n.341+140G>T
NM_002641.3:c.481G>T , LRG_160t1:c.481G>T	NP_002632.1:p.Asp161Tyr
NM_020473.3:c.13+4051G>T	NP_065206.3:n.13+4051G>T
NR_033835.1:n.457+140G>T
NR_033836.1:n.173+424G>T
NM_002641.4:c.481G>T MANE Select	NP_002632.1:p.Asp161Tyr