Canonical Allele Identifier: CA10354150

Gene: PIGA

Linked Data

• ClinVar Variation Id: 471952
• ClinVar RCV Id: RCV000542222 ; RCV002316569 ; RCV000611412 ; RCV002497172
• dbSNP Id: rs61751426
• ExAC: X:15349528 A / G
• gnomAD v2: X-15349528-A-G
• gnomAD v3: X-15331406-A-G
• gnomAD v4: X-15331406-A-G
• MyVariant Identifiers: chrX:g.15349528A>G (hg19) ; chrX:g.15331406A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.15331406A>G , CM000685.2:g.15331406A>G	GRCh38
NC_000023.10:g.15349528A>G , CM000685.1:g.15349528A>G	GRCh37
NC_000023.9:g.15259449A>G	NCBI36
NG_009786.1:g.9133T>C , LRG_160:g.9133T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000333590.6:c.525T>C MANE Select	ENSP00000369820.3:p.Leu175=
ENST00000637296.1:c.-314-107T>C	ENSP00000490545.1:n.-314-107T>C
ENST00000637626.1:c.525T>C	ENSP00000489928.1:p.Leu175=
ENST00000638131.1:c.111+414T>C	ENSP00000490483.1:n.111+414T>C
ENST00000333590.5:c.525T>C	ENSP00000369820.3:p.Leu175=
ENST00000474662.2:n.142+468T>C
ENST00000482148.6:c.341+184T>C	ENSP00000489528.1:n.341+184T>C
ENST00000542278.6:c.525T>C	ENSP00000442653.2:p.Leu175=
ENST00000634286.1:c.134+184T>C	ENSP00000489491.1:n.134+184T>C
ENST00000634582.1:c.13+4095T>C	ENSP00000489540.1:n.13+4095T>C
ENST00000634640.1:c.-231+468T>C	ENSP00000489083.1:n.-231+468T>C
ENST00000635045.1:n.610T>C
ENST00000635598.1:c.341+184T>C	ENSP00000489207.1:n.341+184T>C
NM_002641.3:c.525T>C , LRG_160t1:c.525T>C	NP_002632.1:p.Leu175=
NM_020473.3:c.13+4095T>C	NP_065206.3:n.13+4095T>C
NR_033835.1:n.457+184T>C
NR_033836.1:n.173+468T>C
NM_002641.4:c.525T>C MANE Select	NP_002632.1:p.Leu175=