Canonical Allele Identifier: CA10354173

Gene: PIGA

Linked Data

• dbSNP Id: rs758769627
• ExAC: X:15349773 G / C
• gnomAD v2: X-15349773-G-C
• gnomAD v4: X-15331651-G-C
• MyVariant Identifiers: chrX:g.15349773G>C (hg19) ; chrX:g.15331651G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.15331651G>C , CM000685.2:g.15331651G>C	GRCh38
NC_000023.10:g.15349773G>C , CM000685.1:g.15349773G>C	GRCh37
NC_000023.9:g.15259694G>C	NCBI36
NG_009786.1:g.8888C>G , LRG_160:g.8888C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000333590.6:c.280C>G MANE Select	ENSP00000369820.3:p.Leu94Val
ENST00000637296.1:c.-315+223C>G	ENSP00000490545.1:n.-315+223C>G
ENST00000637626.1:c.280C>G	ENSP00000489928.1:p.Leu94Val
ENST00000638131.1:c.111+169C>G	ENSP00000490483.1:n.111+169C>G
ENST00000333590.5:c.280C>G	ENSP00000369820.3:p.Leu94Val
ENST00000474662.2:n.142+223C>G
ENST00000482148.6:c.280C>G	ENSP00000489528.1:p.Leu94Val
ENST00000542278.6:c.280C>G	ENSP00000442653.2:p.Leu94Val
ENST00000634286.1:c.73C>G	ENSP00000489491.1:p.Leu25Val
ENST00000634582.1:c.13+3850C>G	ENSP00000489540.1:n.13+3850C>G
ENST00000634640.1:c.-231+223C>G	ENSP00000489083.1:n.-231+223C>G
ENST00000635045.1:n.365C>G
ENST00000635543.1:c.280C>G	ENSP00000489205.1:p.Leu94Val
ENST00000635598.1:c.280C>G	ENSP00000489207.1:p.Leu94Val
NM_002641.3:c.280C>G , LRG_160t1:c.280C>G	NP_002632.1:p.Leu94Val
NM_020473.3:c.13+3850C>G	NP_065206.3:n.13+3850C>G
NR_033835.1:n.396C>G
NR_033836.1:n.173+223C>G
NM_002641.4:c.280C>G MANE Select	NP_002632.1:p.Leu94Val