Canonical Allele Identifier: CA412337122
Community Standard Title: NM_002641.4(PIGA):c.831A>T (p.Arg277Ser)
Gene: PIGA HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.15325931T>A , CM000685.2:g.15325931T>A GRCh38
NC_000023.10:g.15344053T>A , CM000685.1:g.15344053T>A GRCh37
NC_000023.9:g.15253974T>A NCBI36
NG_009786.1:g.14608A>T , LRG_160:g.14608A>T

Transcript Alleles

HGVS Amino-acid Change
NM_002641.4:c.831A>T MANE Select NP_002632.1:p.Arg277Ser
ENST00000333590.6:c.831A>T MANE Select ENSP00000369820.3:p.Arg277Ser
NM_002641.3:c.831A>T , LRG_160t1:c.831A>T NP_002632.1:p.Arg277Ser
NM_020473.3:c.129A>T NP_065206.3:p.Arg43Ser
NR_033835.1:n.573A>T
NR_033836.1:n.289A>T
ENST00000333590.5:c.831A>T ENSP00000369820.3:p.Arg277Ser
ENST00000474662.2:n.258A>T
ENST00000482148.6:c.342-779A>T ENSP00000489528.1:n.342-779A>T
ENST00000542278.6:c.831A>T ENSP00000442653.2:p.Arg277Ser
ENST00000634286.1:c.444A>T ENSP00000489491.1:n.444A>T
ENST00000634582.1:c.129A>T ENSP00000489540.1:p.Arg43Ser
ENST00000634640.1:c.-115A>T ENSP00000489083.1:n.-115A>T
ENST00000635045.1:n.916A>T
ENST00000635480.1:n.453A>T
ENST00000635598.1:c.*100A>T ENSP00000489207.1:n.*100A>T
ENST00000635631.1:n.172A>T
ENST00000637296.1:c.-115A>T ENSP00000490545.1:n.-115A>T
ENST00000637626.1:c.*312A>T ENSP00000489928.1:n.*312A>T
ENST00000638131.1:c.*92A>T ENSP00000490483.1:n.*92A>T
XM_011545539.1:c.138A>T XP_011543841.1:p.Arg46Ser
XM_011545539.2:c.138A>T XP_011543841.1:p.Arg46Ser