Canonical Allele Identifier: CA515624388

Gene: PIGA

Linked Data

• ClinVar Variation Id: 1122148
• ClinVar RCV Id: RCV001452685
• dbSNP Id: rs2147723733
• MyVariant Identifiers: chrX:g.15349666A>G (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.15331544A>G , CM000685.2:g.15331544A>G	GRCh38
NC_000023.10:g.15349666A>G , CM000685.1:g.15349666A>G	GRCh37
NC_000023.9:g.15259587A>G	NCBI36
NG_009786.1:g.8995T>C , LRG_160:g.8995T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000333590.6:c.387T>C MANE Select	ENSP00000369820.3:p.Ser129=
ENST00000637296.1:c.-314-245T>C	ENSP00000490545.1:n.-314-245T>C
ENST00000637626.1:c.387T>C	ENSP00000489928.1:p.Ser129=
ENST00000638131.1:c.111+276T>C	ENSP00000490483.1:n.111+276T>C
ENST00000333590.5:c.387T>C	ENSP00000369820.3:p.Ser129=
ENST00000474662.2:n.142+330T>C
ENST00000482148.6:c.341+46T>C	ENSP00000489528.1:n.341+46T>C
ENST00000542278.6:c.387T>C	ENSP00000442653.2:p.Ser129=
ENST00000634286.1:c.134+46T>C	ENSP00000489491.1:n.134+46T>C
ENST00000634582.1:c.13+3957T>C	ENSP00000489540.1:n.13+3957T>C
ENST00000634640.1:c.-231+330T>C	ENSP00000489083.1:n.-231+330T>C
ENST00000635045.1:n.472T>C
ENST00000635543.1:c.387T>C	ENSP00000489205.1:p.Ser129=
ENST00000635598.1:c.341+46T>C	ENSP00000489207.1:n.341+46T>C
NM_002641.3:c.387T>C , LRG_160t1:c.387T>C	NP_002632.1:p.Ser129=
NM_020473.3:c.13+3957T>C	NP_065206.3:n.13+3957T>C
NR_033835.1:n.457+46T>C
NR_033836.1:n.173+330T>C
NM_002641.4:c.387T>C MANE Select	NP_002632.1:p.Ser129=