Canonical Allele Identifier: CA10354082
Gene: PIGA HGNC NCBI
ClinVar Variation:
gnomAD v4:
MyVariant.info:

Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.15324665C>T , CM000685.2:g.15324665C>T GRCh38
NC_000023.10:g.15342787C>T , CM000685.1:g.15342787C>T GRCh37
NC_000023.9:g.15252708C>T NCBI36
NG_009786.1:g.15874G>A , LRG_160:g.15874G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000333590.6:c.1188G>A MANE Select ENSP00000369820.3:p.Lys396=
ENST00000637296.1:c.243G>A ENSP00000490545.1:p.Lys81=
ENST00000637626.1:c.*669G>A ENSP00000489928.1:n.*669G>A
ENST00000638131.1:c.*449G>A ENSP00000490483.1:n.*449G>A
ENST00000333590.5:c.1188G>A ENSP00000369820.3:p.Lys396=
ENST00000463173.1:n.460G>A
ENST00000475746.1:c.81+355G>A ENSP00000488970.1:n.81+355G>A
ENST00000482148.6:c.681G>A ENSP00000489528.1:p.Lys227=
ENST00000542278.6:c.1188G>A ENSP00000442653.2:p.Lys396=
ENST00000634582.1:c.486G>A ENSP00000489540.1:p.Lys162=
ENST00000634640.1:c.243G>A ENSP00000489083.1:p.Lys81=
ENST00000635045.1:n.1421G>A
ENST00000635598.1:c.*457G>A ENSP00000489207.1:n.*457G>A
ENST00000635631.1:n.529G>A
NM_002641.3:c.1188G>A , LRG_160t1:c.1188G>A NP_002632.1:p.Lys396=
NM_020473.3:c.486G>A NP_065206.3:p.Lys162=
NR_033835.1:n.930G>A
NR_033836.1:n.646G>A
XM_011545539.1:c.495G>A XP_011543841.1:p.Lys165=
XM_011545539.2:c.495G>A XP_011543841.1:p.Lys165=
NM_002641.4:c.1188G>A MANE Select NP_002632.1:p.Lys396=