Canonical Allele Identifier: CA412339952
Gene: PIGA HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.15331500G>A , CM000685.2:g.15331500G>A GRCh38
NC_000023.10:g.15349622G>A , CM000685.1:g.15349622G>A GRCh37
NC_000023.9:g.15259543G>A NCBI36
NG_009786.1:g.9039C>T , LRG_160:g.9039C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000333590.6:c.431C>T MANE Select ENSP00000369820.3:p.Thr144Ile
ENST00000637296.1:c.-314-201C>T ENSP00000490545.1:n.-314-201C>T
ENST00000637626.1:c.431C>T ENSP00000489928.1:p.Thr144Ile
ENST00000638131.1:c.111+320C>T ENSP00000490483.1:n.111+320C>T
ENST00000333590.5:c.431C>T ENSP00000369820.3:p.Thr144Ile
ENST00000474662.2:n.142+374C>T
ENST00000482148.6:c.341+90C>T ENSP00000489528.1:n.341+90C>T
ENST00000542278.6:c.431C>T ENSP00000442653.2:p.Thr144Ile
ENST00000634286.1:c.134+90C>T ENSP00000489491.1:n.134+90C>T
ENST00000634582.1:c.13+4001C>T ENSP00000489540.1:n.13+4001C>T
ENST00000634640.1:c.-231+374C>T ENSP00000489083.1:n.-231+374C>T
ENST00000635045.1:n.516C>T
ENST00000635543.1:c.431C>T ENSP00000489205.1:p.Thr144Ile
ENST00000635598.1:c.341+90C>T ENSP00000489207.1:n.341+90C>T
NM_002641.3:c.431C>T , LRG_160t1:c.431C>T NP_002632.1:p.Thr144Ile
NM_020473.3:c.13+4001C>T NP_065206.3:n.13+4001C>T
NR_033835.1:n.457+90C>T
NR_033836.1:n.173+374C>T
NM_002641.4:c.431C>T MANE Select NP_002632.1:p.Thr144Ile