Canonical Allele Identifier: CA156230
Gene: PIGA HGNC NCBI

Linked Data

ClinVar Variation Id: 132819
ClinVar RCV Id: RCV000119288
dbSNP Id: rs587777400
MyVariant Identifiers: chrX:g.15349775G>A (hg19) chrX:g.15331653G>A (hg38)
PubMed: PMID:24259184
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.15331653G>A , CM000685.2:g.15331653G>A GRCh38
NC_000023.10:g.15349775G>A , CM000685.1:g.15349775G>A GRCh37
NC_000023.9:g.15259696G>A NCBI36
NG_009786.1:g.8886C>T , LRG_160:g.8886C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000333590.6:c.278C>T MANE Select ENSP00000369820.3:p.Pro93Leu
ENST00000637296.1:c.-315+221C>T ENSP00000490545.1:n.-315+221C>T
ENST00000637626.1:c.278C>T ENSP00000489928.1:p.Pro93Leu
ENST00000638131.1:c.111+167C>T ENSP00000490483.1:n.111+167C>T
ENST00000333590.5:c.278C>T ENSP00000369820.3:p.Pro93Leu
ENST00000474662.2:n.142+221C>T
ENST00000482148.6:c.278C>T ENSP00000489528.1:p.Pro93Leu
ENST00000542278.6:c.278C>T ENSP00000442653.2:p.Pro93Leu
ENST00000634286.1:c.71C>T ENSP00000489491.1:p.Pro24Leu
ENST00000634582.1:c.13+3848C>T ENSP00000489540.1:n.13+3848C>T
ENST00000634640.1:c.-231+221C>T ENSP00000489083.1:n.-231+221C>T
ENST00000635045.1:n.363C>T
ENST00000635543.1:c.278C>T ENSP00000489205.1:p.Pro93Leu
ENST00000635598.1:c.278C>T ENSP00000489207.1:p.Pro93Leu
NM_002641.3:c.278C>T , LRG_160t1:c.278C>T NP_002632.1:p.Pro93Leu
NM_020473.3:c.13+3848C>T NP_065206.3:n.13+3848C>T
NR_033835.1:n.394C>T
NR_033836.1:n.173+221C>T
NM_002641.4:c.278C>T MANE Select NP_002632.1:p.Pro93Leu
Search 100 bp 5'
Search 100 bp 3'