Canonical Allele Identifier: CA412340487
Gene: PIGA HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.15331600G>A , CM000685.2:g.15331600G>A GRCh38
NC_000023.10:g.15349722G>A , CM000685.1:g.15349722G>A GRCh37
NC_000023.9:g.15259643G>A NCBI36
NG_009786.1:g.8939C>T , LRG_160:g.8939C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000333590.6:c.331C>T MANE Select ENSP00000369820.3:p.Pro111Ser
ENST00000637296.1:c.-315+274C>T ENSP00000490545.1:n.-315+274C>T
ENST00000637626.1:c.331C>T ENSP00000489928.1:p.Pro111Ser
ENST00000638131.1:c.111+220C>T ENSP00000490483.1:n.111+220C>T
ENST00000333590.5:c.331C>T ENSP00000369820.3:p.Pro111Ser
ENST00000474662.2:n.142+274C>T
ENST00000482148.6:c.331C>T ENSP00000489528.1:p.Pro111Ser
ENST00000542278.6:c.331C>T ENSP00000442653.2:p.Pro111Ser
ENST00000634286.1:c.124C>T ENSP00000489491.1:p.Pro42Ser
ENST00000634582.1:c.13+3901C>T ENSP00000489540.1:n.13+3901C>T
ENST00000634640.1:c.-231+274C>T ENSP00000489083.1:n.-231+274C>T
ENST00000635045.1:n.416C>T
ENST00000635543.1:c.331C>T ENSP00000489205.1:p.Pro111Ser
ENST00000635598.1:c.331C>T ENSP00000489207.1:p.Pro111Ser
NM_002641.3:c.331C>T , LRG_160t1:c.331C>T NP_002632.1:p.Pro111Ser
NM_020473.3:c.13+3901C>T NP_065206.3:n.13+3901C>T
NR_033835.1:n.447C>T
NR_033836.1:n.173+274C>T
NM_002641.4:c.331C>T MANE Select NP_002632.1:p.Pro111Ser