Canonical Allele Identifier: CA412334882

Gene: PIGA

Linked Data

• ClinVar Variation Id: 1055015
• ClinVar RCV Id: RCV001363616 ; RCV003479319
• dbSNP Id: rs759697480
• gnomAD v4: X-15321760-C-T
• MyVariant Identifiers: chrX:g.15339882C>T (hg19) ; chrX:g.15321760C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.15321760C>T , CM000685.2:g.15321760C>T	GRCh38
NC_000023.10:g.15339882C>T , CM000685.1:g.15339882C>T	GRCh37
NC_000023.9:g.15249803C>T	NCBI36
NG_009786.1:g.18779G>A , LRG_160:g.18779G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000333590.6:c.1201G>A MANE Select	ENSP00000369820.3:p.Val401Ile
ENST00000637296.1:c.256G>A	ENSP00000490545.1:p.Val86Ile
ENST00000637626.1:c.*682G>A	ENSP00000489928.1:n.*682G>A
ENST00000638131.1:c.*462G>A	ENSP00000490483.1:n.*462G>A
ENST00000333590.5:c.1201G>A	ENSP00000369820.3:p.Val401Ile
ENST00000463173.1:n.473G>A
ENST00000475746.1:c.94G>A	ENSP00000488970.1:p.Val32Ile
ENST00000482148.6:c.694G>A	ENSP00000489528.1:p.Val232Ile
ENST00000542278.6:c.1201G>A	ENSP00000442653.2:p.Val401Ile
ENST00000634582.1:c.499G>A	ENSP00000489540.1:p.Val167Ile
ENST00000634640.1:c.256G>A	ENSP00000489083.1:p.Val86Ile
ENST00000635045.1:n.1434G>A
ENST00000635598.1:c.*470G>A	ENSP00000489207.1:n.*470G>A
ENST00000635631.1:n.542G>A
NM_002641.3:c.1201G>A , LRG_160t1:c.1201G>A	NP_002632.1:p.Val401Ile
NM_020473.3:c.499G>A	NP_065206.3:p.Val167Ile
NR_033835.1:n.943G>A
NR_033836.1:n.659G>A
XM_011545539.1:c.508G>A	XP_011543841.1:p.Val170Ile
XM_011545539.2:c.508G>A	XP_011543841.1:p.Val170Ile
NM_002641.4:c.1201G>A MANE Select	NP_002632.1:p.Val401Ile