Canonical Allele Identifier: CA156219
Gene: PIGA HGNC NCBI

Linked Data

ClinVar Variation Id: 132814
ClinVar RCV Id: RCV000119283 RCV000443275
dbSNP Id: rs587777396
MyVariant Identifiers: chrX:g.15349698G>A (hg19) chrX:g.15331576G>A (hg38)
PubMed: PMID:24706016
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Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.15331576G>A , CM000685.2:g.15331576G>A GRCh38
NC_000023.10:g.15349698G>A , CM000685.1:g.15349698G>A GRCh37
NC_000023.9:g.15259619G>A NCBI36
NG_009786.1:g.8963C>T , LRG_160:g.8963C>T

Transcript Alleles

HGVS Amino-acid change
ENST00000333590.6:c.355C>T MANE Select ENSP00000369820.3:p.Arg119Trp
ENST00000637296.1:c.-314-277C>T ENSP00000490545.1:n.-314-277C>T
ENST00000637626.1:c.355C>T ENSP00000489928.1:p.Arg119Trp
ENST00000638131.1:c.111+244C>T ENSP00000490483.1:n.111+244C>T
ENST00000333590.5:c.355C>T ENSP00000369820.3:p.Arg119Trp
ENST00000474662.2:n.142+298C>T
ENST00000482148.6:c.341+14C>T ENSP00000489528.1:n.341+14C>T
ENST00000542278.6:c.355C>T ENSP00000442653.2:p.Arg119Trp
ENST00000634286.1:c.134+14C>T ENSP00000489491.1:n.134+14C>T
ENST00000634582.1:c.13+3925C>T ENSP00000489540.1:n.13+3925C>T
ENST00000634640.1:c.-231+298C>T ENSP00000489083.1:n.-231+298C>T
ENST00000635045.1:n.440C>T
ENST00000635543.1:c.355C>T ENSP00000489205.1:p.Arg119Trp
ENST00000635598.1:c.341+14C>T ENSP00000489207.1:n.341+14C>T
NM_002641.3:c.355C>T , LRG_160t1:c.355C>T NP_002632.1:p.Arg119Trp
NM_020473.3:c.13+3925C>T NP_065206.3:n.13+3925C>T
NR_033835.1:n.457+14C>T
NR_033836.1:n.173+298C>T
NM_002641.4:c.355C>T MANE Select NP_002632.1:p.Arg119Trp
Search 100 bp 5'
Search 100 bp 3'