Canonical Allele Identifier: CA412340893
Gene: PIGA HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.15331674C>G , CM000685.2:g.15331674C>G GRCh38
NC_000023.10:g.15349796C>G , CM000685.1:g.15349796C>G GRCh37
NC_000023.9:g.15259717C>G NCBI36
NG_009786.1:g.8865G>C , LRG_160:g.8865G>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000333590.6:c.257G>C MANE Select ENSP00000369820.3:p.Gly86Ala
ENST00000637296.1:c.-315+200G>C ENSP00000490545.1:n.-315+200G>C
ENST00000637626.1:c.257G>C ENSP00000489928.1:p.Gly86Ala
ENST00000638131.1:c.111+146G>C ENSP00000490483.1:n.111+146G>C
ENST00000333590.5:c.257G>C ENSP00000369820.3:p.Gly86Ala
ENST00000474662.2:n.142+200G>C
ENST00000482148.6:c.257G>C ENSP00000489528.1:p.Gly86Ala
ENST00000542278.6:c.257G>C ENSP00000442653.2:p.Gly86Ala
ENST00000634286.1:c.50G>C ENSP00000489491.1:p.Gly17Ala
ENST00000634582.1:c.13+3827G>C ENSP00000489540.1:n.13+3827G>C
ENST00000634640.1:c.-231+200G>C ENSP00000489083.1:n.-231+200G>C
ENST00000635045.1:n.342G>C
ENST00000635543.1:c.257G>C ENSP00000489205.1:p.Gly86Ala
ENST00000635598.1:c.257G>C ENSP00000489207.1:p.Gly86Ala
NM_002641.3:c.257G>C , LRG_160t1:c.257G>C NP_002632.1:p.Gly86Ala
NM_020473.3:c.13+3827G>C NP_065206.3:n.13+3827G>C
NR_033835.1:n.373G>C
NR_033836.1:n.173+200G>C
NM_002641.4:c.257G>C MANE Select NP_002632.1:p.Gly86Ala