Canonical Allele Identifier: CA412340569

Gene: PIGA

Linked Data

• ClinVar Variation Id: 2060098
• ClinVar RCV Id: RCV002957507
• MyVariant Identifiers: chrX:g.15349736A>G (hg19) ; chrX:g.15331614A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.15331614A>G , CM000685.2:g.15331614A>G	GRCh38
NC_000023.10:g.15349736A>G , CM000685.1:g.15349736A>G	GRCh37
NC_000023.9:g.15259657A>G	NCBI36
NG_009786.1:g.8925T>C , LRG_160:g.8925T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000333590.6:c.317T>C MANE Select	ENSP00000369820.3:p.Leu106Pro
ENST00000637296.1:c.-315+260T>C	ENSP00000490545.1:n.-315+260T>C
ENST00000637626.1:c.317T>C	ENSP00000489928.1:p.Leu106Pro
ENST00000638131.1:c.111+206T>C	ENSP00000490483.1:n.111+206T>C
ENST00000333590.5:c.317T>C	ENSP00000369820.3:p.Leu106Pro
ENST00000474662.2:n.142+260T>C
ENST00000482148.6:c.317T>C	ENSP00000489528.1:p.Leu106Pro
ENST00000542278.6:c.317T>C	ENSP00000442653.2:p.Leu106Pro
ENST00000634286.1:c.110T>C	ENSP00000489491.1:p.Leu37Pro
ENST00000634582.1:c.13+3887T>C	ENSP00000489540.1:n.13+3887T>C
ENST00000634640.1:c.-231+260T>C	ENSP00000489083.1:n.-231+260T>C
ENST00000635045.1:n.402T>C
ENST00000635543.1:c.317T>C	ENSP00000489205.1:p.Leu106Pro
ENST00000635598.1:c.317T>C	ENSP00000489207.1:p.Leu106Pro
NM_002641.3:c.317T>C , LRG_160t1:c.317T>C	NP_002632.1:p.Leu106Pro
NM_020473.3:c.13+3887T>C	NP_065206.3:n.13+3887T>C
NR_033835.1:n.433T>C
NR_033836.1:n.173+260T>C
NM_002641.4:c.317T>C MANE Select	NP_002632.1:p.Leu106Pro