Canonical Allele Identifier: CA412340314

Gene: PIGA

Linked Data

• ClinVar Variation Id: 432113
• ClinVar RCV Id: RCV000497905 ; RCV001249629 ; RCV001341771
• dbSNP Id: rs1555945480
• MyVariant Identifiers: chrX:g.15349685G>A (hg19) ; chrX:g.15331563G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.15331563G>A , CM000685.2:g.15331563G>A	GRCh38
NC_000023.10:g.15349685G>A , CM000685.1:g.15349685G>A	GRCh37
NC_000023.9:g.15259606G>A	NCBI36
NG_009786.1:g.8976C>T , LRG_160:g.8976C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000333590.6:c.368C>T MANE Select	ENSP00000369820.3:p.Thr123Met
ENST00000637296.1:c.-314-264C>T	ENSP00000490545.1:n.-314-264C>T
ENST00000637626.1:c.368C>T	ENSP00000489928.1:p.Thr123Met
ENST00000638131.1:c.111+257C>T	ENSP00000490483.1:n.111+257C>T
ENST00000333590.5:c.368C>T	ENSP00000369820.3:p.Thr123Met
ENST00000474662.2:n.142+311C>T
ENST00000482148.6:c.341+27C>T	ENSP00000489528.1:n.341+27C>T
ENST00000542278.6:c.368C>T	ENSP00000442653.2:p.Thr123Met
ENST00000634286.1:c.134+27C>T	ENSP00000489491.1:n.134+27C>T
ENST00000634582.1:c.13+3938C>T	ENSP00000489540.1:n.13+3938C>T
ENST00000634640.1:c.-231+311C>T	ENSP00000489083.1:n.-231+311C>T
ENST00000635045.1:n.453C>T
ENST00000635543.1:c.368C>T	ENSP00000489205.1:p.Thr123Met
ENST00000635598.1:c.341+27C>T	ENSP00000489207.1:n.341+27C>T
NM_002641.3:c.368C>T , LRG_160t1:c.368C>T	NP_002632.1:p.Thr123Met
NM_020473.3:c.13+3938C>T	NP_065206.3:n.13+3938C>T
NR_033835.1:n.457+27C>T
NR_033836.1:n.173+311C>T
NM_002641.4:c.368C>T MANE Select	NP_002632.1:p.Thr123Met