Canonical Allele Identifier: CA412340171
Gene: PIGA HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.15331527G>T , CM000685.2:g.15331527G>T GRCh38
NC_000023.10:g.15349649G>T , CM000685.1:g.15349649G>T GRCh37
NC_000023.9:g.15259570G>T NCBI36
NG_009786.1:g.9012C>A , LRG_160:g.9012C>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000333590.6:c.404C>A MANE Select ENSP00000369820.3:p.Ala135Asp
ENST00000637296.1:c.-314-228C>A ENSP00000490545.1:n.-314-228C>A
ENST00000637626.1:c.404C>A ENSP00000489928.1:p.Ala135Asp
ENST00000638131.1:c.111+293C>A ENSP00000490483.1:n.111+293C>A
ENST00000333590.5:c.404C>A ENSP00000369820.3:p.Ala135Asp
ENST00000474662.2:n.142+347C>A
ENST00000482148.6:c.341+63C>A ENSP00000489528.1:n.341+63C>A
ENST00000542278.6:c.404C>A ENSP00000442653.2:p.Ala135Asp
ENST00000634286.1:c.134+63C>A ENSP00000489491.1:n.134+63C>A
ENST00000634582.1:c.13+3974C>A ENSP00000489540.1:n.13+3974C>A
ENST00000634640.1:c.-231+347C>A ENSP00000489083.1:n.-231+347C>A
ENST00000635045.1:n.489C>A
ENST00000635543.1:c.404C>A ENSP00000489205.1:p.Ala135Asp
ENST00000635598.1:c.341+63C>A ENSP00000489207.1:n.341+63C>A
NM_002641.3:c.404C>A , LRG_160t1:c.404C>A NP_002632.1:p.Ala135Asp
NM_020473.3:c.13+3974C>A NP_065206.3:n.13+3974C>A
NR_033835.1:n.457+63C>A
NR_033836.1:n.173+347C>A
NM_002641.4:c.404C>A MANE Select NP_002632.1:p.Ala135Asp