Canonical Allele Identifier: CA515624379
Gene: PIGA HGNC NCBI

Linked Data

MyVariant Identifiers: chrX:g.15349663A>C (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.15331541A>C , CM000685.2:g.15331541A>C GRCh38
NC_000023.10:g.15349663A>C , CM000685.1:g.15349663A>C GRCh37
NC_000023.9:g.15259584A>C NCBI36
NG_009786.1:g.8998T>G , LRG_160:g.8998T>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000333590.6:c.390T>G MANE Select ENSP00000369820.3:p.Ser130=
ENST00000637296.1:c.-314-242T>G ENSP00000490545.1:n.-314-242T>G
ENST00000637626.1:c.390T>G ENSP00000489928.1:p.Ser130=
ENST00000638131.1:c.111+279T>G ENSP00000490483.1:n.111+279T>G
ENST00000333590.5:c.390T>G ENSP00000369820.3:p.Ser130=
ENST00000474662.2:n.142+333T>G
ENST00000482148.6:c.341+49T>G ENSP00000489528.1:n.341+49T>G
ENST00000542278.6:c.390T>G ENSP00000442653.2:p.Ser130=
ENST00000634286.1:c.134+49T>G ENSP00000489491.1:n.134+49T>G
ENST00000634582.1:c.13+3960T>G ENSP00000489540.1:n.13+3960T>G
ENST00000634640.1:c.-231+333T>G ENSP00000489083.1:n.-231+333T>G
ENST00000635045.1:n.475T>G
ENST00000635543.1:c.390T>G ENSP00000489205.1:p.Ser130=
ENST00000635598.1:c.341+49T>G ENSP00000489207.1:n.341+49T>G
NM_002641.3:c.390T>G , LRG_160t1:c.390T>G NP_002632.1:p.Ser130=
NM_020473.3:c.13+3960T>G NP_065206.3:n.13+3960T>G
NR_033835.1:n.457+49T>G
NR_033836.1:n.173+333T>G
NM_002641.4:c.390T>G MANE Select NP_002632.1:p.Ser130=