Canonical Allele Identifier: CA10354171

Gene: PIGA

Linked Data

• ClinVar Variation Id: 2788678
• ClinVar RCV Id: RCV003645433
• dbSNP Id: rs779205409
• ExAC: X:15349762 C / A
• gnomAD v2: X-15349762-C-A
• gnomAD v4: X-15331640-C-A
• MyVariant Identifiers: chrX:g.15349762C>A (hg19) ; chrX:g.15331640C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.15331640C>A , CM000685.2:g.15331640C>A	GRCh38
NC_000023.10:g.15349762C>A , CM000685.1:g.15349762C>A	GRCh37
NC_000023.9:g.15259683C>A	NCBI36
NG_009786.1:g.8899G>T , LRG_160:g.8899G>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000333590.6:c.291G>T MANE Select	ENSP00000369820.3:p.Met97Ile
ENST00000637296.1:c.-315+234G>T	ENSP00000490545.1:n.-315+234G>T
ENST00000637626.1:c.291G>T	ENSP00000489928.1:p.Met97Ile
ENST00000638131.1:c.111+180G>T	ENSP00000490483.1:n.111+180G>T
ENST00000333590.5:c.291G>T	ENSP00000369820.3:p.Met97Ile
ENST00000474662.2:n.142+234G>T
ENST00000482148.6:c.291G>T	ENSP00000489528.1:p.Met97Ile
ENST00000542278.6:c.291G>T	ENSP00000442653.2:p.Met97Ile
ENST00000634286.1:c.84G>T	ENSP00000489491.1:p.Met28Ile
ENST00000634582.1:c.13+3861G>T	ENSP00000489540.1:n.13+3861G>T
ENST00000634640.1:c.-231+234G>T	ENSP00000489083.1:n.-231+234G>T
ENST00000635045.1:n.376G>T
ENST00000635543.1:c.291G>T	ENSP00000489205.1:p.Met97Ile
ENST00000635598.1:c.291G>T	ENSP00000489207.1:p.Met97Ile
NM_002641.3:c.291G>T , LRG_160t1:c.291G>T	NP_002632.1:p.Met97Ile
NM_020473.3:c.13+3861G>T	NP_065206.3:n.13+3861G>T
NR_033835.1:n.407G>T
NR_033836.1:n.173+234G>T
NM_002641.4:c.291G>T MANE Select	NP_002632.1:p.Met97Ile