Canonical Allele Identifier: CA412339949
Gene: PIGA HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.15331498T>A , CM000685.2:g.15331498T>A GRCh38
NC_000023.10:g.15349620T>A , CM000685.1:g.15349620T>A GRCh37
NC_000023.9:g.15259541T>A NCBI36
NG_009786.1:g.9041A>T , LRG_160:g.9041A>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000333590.6:c.433A>T MANE Select ENSP00000369820.3:p.Met145Leu
ENST00000637296.1:c.-314-199A>T ENSP00000490545.1:n.-314-199A>T
ENST00000637626.1:c.433A>T ENSP00000489928.1:p.Met145Leu
ENST00000638131.1:c.111+322A>T ENSP00000490483.1:n.111+322A>T
ENST00000333590.5:c.433A>T ENSP00000369820.3:p.Met145Leu
ENST00000474662.2:n.142+376A>T
ENST00000482148.6:c.341+92A>T ENSP00000489528.1:n.341+92A>T
ENST00000542278.6:c.433A>T ENSP00000442653.2:p.Met145Leu
ENST00000634286.1:c.134+92A>T ENSP00000489491.1:n.134+92A>T
ENST00000634582.1:c.13+4003A>T ENSP00000489540.1:n.13+4003A>T
ENST00000634640.1:c.-231+376A>T ENSP00000489083.1:n.-231+376A>T
ENST00000635045.1:n.518A>T
ENST00000635543.1:c.433A>T ENSP00000489205.1:p.Met145Leu
ENST00000635598.1:c.341+92A>T ENSP00000489207.1:n.341+92A>T
NM_002641.3:c.433A>T , LRG_160t1:c.433A>T NP_002632.1:p.Met145Leu
NM_020473.3:c.13+4003A>T NP_065206.3:n.13+4003A>T
NR_033835.1:n.457+92A>T
NR_033836.1:n.173+376A>T
NM_002641.4:c.433A>T MANE Select NP_002632.1:p.Met145Leu