Canonical Allele Identifier: CA412334985
Community Standard Title: NM_002641.4(PIGA):c.1188+1G>A
Gene: PIGA HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.15324664C>T , CM000685.2:g.15324664C>T GRCh38
NC_000023.10:g.15342786C>T , CM000685.1:g.15342786C>T GRCh37
NC_000023.9:g.15252707C>T NCBI36
NG_009786.1:g.15875G>A , LRG_160:g.15875G>A

Transcript Alleles

HGVS Amino-acid Change
NM_002641.4:c.1188+1G>A MANE Select NP_002632.1:n.1188+1G>A
ENST00000333590.6:c.1188+1G>A MANE Select ENSP00000369820.3:n.1188+1G>A
NM_002641.3:c.1188+1G>A , LRG_160t1:c.1188+1G>A NP_002632.1:n.1188+1G>A
NM_020473.3:c.486+1G>A NP_065206.3:n.486+1G>A
NR_033835.1:n.930+1G>A
NR_033836.1:n.646+1G>A
ENST00000333590.5:c.1188+1G>A ENSP00000369820.3:n.1188+1G>A
ENST00000463173.1:n.460+1G>A
ENST00000475746.1:c.81+356G>A ENSP00000488970.1:n.81+356G>A
ENST00000482148.6:c.681+1G>A ENSP00000489528.1:n.681+1G>A
ENST00000542278.6:c.1188+1G>A ENSP00000442653.2:n.1188+1G>A
ENST00000634582.1:c.486+1G>A ENSP00000489540.1:n.486+1G>A
ENST00000634640.1:c.243+1G>A ENSP00000489083.1:n.243+1G>A
ENST00000635045.1:n.1421+1G>A
ENST00000635598.1:c.*457+1G>A ENSP00000489207.1:n.*457+1G>A
ENST00000635631.1:n.529+1G>A
ENST00000637296.1:c.243+1G>A ENSP00000490545.1:n.243+1G>A
ENST00000637626.1:c.*669+1G>A ENSP00000489928.1:n.*669+1G>A
ENST00000638131.1:c.*449+1G>A ENSP00000490483.1:n.*449+1G>A
XM_011545539.1:c.495+1G>A XP_011543841.1:n.495+1G>A
XM_011545539.2:c.495+1G>A XP_011543841.1:n.495+1G>A