Canonical Allele Identifier: CA412340014

Gene: PIGA

Linked Data

• ClinVar Variation Id: 595845
• ClinVar RCV Id: RCV000731506 ; RCV002535212 ; RCV003987687
• dbSNP Id: rs1569179995
• COSMIC: COSM1466578
• MyVariant Identifiers: chrX:g.15349629C>T (hg19) ; chrX:g.15331507C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.15331507C>T , CM000685.2:g.15331507C>T	GRCh38
NC_000023.10:g.15349629C>T , CM000685.1:g.15349629C>T	GRCh37
NC_000023.9:g.15259550C>T	NCBI36
NG_009786.1:g.9032G>A , LRG_160:g.9032G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000333590.6:c.424G>A MANE Select	ENSP00000369820.3:p.Ala142Thr
ENST00000637296.1:c.-314-208G>A	ENSP00000490545.1:n.-314-208G>A
ENST00000637626.1:c.424G>A	ENSP00000489928.1:p.Ala142Thr
ENST00000638131.1:c.111+313G>A	ENSP00000490483.1:n.111+313G>A
ENST00000333590.5:c.424G>A	ENSP00000369820.3:p.Ala142Thr
ENST00000474662.2:n.142+367G>A
ENST00000482148.6:c.341+83G>A	ENSP00000489528.1:n.341+83G>A
ENST00000542278.6:c.424G>A	ENSP00000442653.2:p.Ala142Thr
ENST00000634286.1:c.134+83G>A	ENSP00000489491.1:n.134+83G>A
ENST00000634582.1:c.13+3994G>A	ENSP00000489540.1:n.13+3994G>A
ENST00000634640.1:c.-231+367G>A	ENSP00000489083.1:n.-231+367G>A
ENST00000635045.1:n.509G>A
ENST00000635543.1:c.424G>A	ENSP00000489205.1:p.Ala142Thr
ENST00000635598.1:c.341+83G>A	ENSP00000489207.1:n.341+83G>A
NM_002641.3:c.424G>A , LRG_160t1:c.424G>A	NP_002632.1:p.Ala142Thr
NM_020473.3:c.13+3994G>A	NP_065206.3:n.13+3994G>A
NR_033835.1:n.457+83G>A
NR_033836.1:n.173+367G>A
NM_002641.4:c.424G>A MANE Select	NP_002632.1:p.Ala142Thr