Canonical Allele Identifier: CA10354057

Gene: PIGA

Linked Data

• ClinVar Variation Id: 2165092
• ClinVar RCV Id: RCV003088365
• dbSNP Id: rs749080220
• ExAC: X:15339764 A / G
• gnomAD v2: X-15339764-A-G
• gnomAD v3: X-15321642-A-G
• gnomAD v4: X-15321642-A-G
• MyVariant Identifiers: chrX:g.15339764A>G (hg19) ; chrX:g.15321642A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.15321642A>G , CM000685.2:g.15321642A>G	GRCh38
NC_000023.10:g.15339764A>G , CM000685.1:g.15339764A>G	GRCh37
NC_000023.9:g.15249685A>G	NCBI36
NG_009786.1:g.18897T>C , LRG_160:g.18897T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000333590.6:c.1319T>C MANE Select	ENSP00000369820.3:p.Ile440Thr
ENST00000637296.1:c.374T>C	ENSP00000490545.1:p.Ile125Thr
ENST00000637626.1:c.*800T>C	ENSP00000489928.1:n.*800T>C
ENST00000638131.1:c.*580T>C	ENSP00000490483.1:n.*580T>C
ENST00000333590.5:c.1319T>C	ENSP00000369820.3:p.Ile440Thr
ENST00000482148.6:c.812T>C	ENSP00000489528.1:p.Ile271Thr
ENST00000542278.6:c.1319T>C	ENSP00000442653.2:p.Ile440Thr
ENST00000634582.1:c.617T>C	ENSP00000489540.1:p.Ile206Thr
ENST00000634640.1:c.374T>C	ENSP00000489083.1:p.Ile125Thr
ENST00000635045.1:n.1552T>C
ENST00000635598.1:c.*588T>C	ENSP00000489207.1:n.*588T>C
ENST00000635631.1:n.660T>C
NM_002641.3:c.1319T>C , LRG_160t1:c.1319T>C	NP_002632.1:p.Ile440Thr
NM_020473.3:c.617T>C	NP_065206.3:p.Ile206Thr
NR_033835.1:n.1061T>C
NR_033836.1:n.777T>C
XM_011545539.1:c.626T>C	XP_011543841.1:p.Ile209Thr
XM_011545539.2:c.626T>C	XP_011543841.1:p.Ile209Thr
NM_002641.4:c.1319T>C MANE Select	NP_002632.1:p.Ile440Thr