Canonical Allele Identifier: CA326944304
Community Standard Title: NM_002641.4(PIGA):c.1204T>G (p.Ser402Ala)
Gene: PIGA HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.15321757A>C , CM000685.2:g.15321757A>C GRCh38
NC_000023.10:g.15339879A>C , CM000685.1:g.15339879A>C GRCh37
NC_000023.9:g.15249800A>C NCBI36
NG_009786.1:g.18782T>G , LRG_160:g.18782T>G

Transcript Alleles

HGVS Amino-acid Change
NM_002641.4:c.1204T>G MANE Select NP_002632.1:p.Ser402Ala
ENST00000333590.6:c.1204T>G MANE Select ENSP00000369820.3:p.Ser402Ala
NM_002641.3:c.1204T>G , LRG_160t1:c.1204T>G NP_002632.1:p.Ser402Ala
NM_020473.3:c.502T>G NP_065206.3:p.Ser168Ala
NR_033835.1:n.946T>G
NR_033836.1:n.662T>G
ENST00000333590.5:c.1204T>G ENSP00000369820.3:p.Ser402Ala
ENST00000463173.1:n.476T>G
ENST00000475746.1:c.97T>G ENSP00000488970.1:p.Ser33Ala
ENST00000482148.6:c.697T>G ENSP00000489528.1:p.Ser233Ala
ENST00000542278.6:c.1204T>G ENSP00000442653.2:p.Ser402Ala
ENST00000634582.1:c.502T>G ENSP00000489540.1:p.Ser168Ala
ENST00000634640.1:c.259T>G ENSP00000489083.1:p.Ser87Ala
ENST00000635045.1:n.1437T>G
ENST00000635598.1:c.*473T>G ENSP00000489207.1:n.*473T>G
ENST00000635631.1:n.545T>G
ENST00000637296.1:c.259T>G ENSP00000490545.1:p.Ser87Ala
ENST00000637626.1:c.*685T>G ENSP00000489928.1:n.*685T>G
ENST00000638131.1:c.*465T>G ENSP00000490483.1:n.*465T>G
XM_011545539.1:c.511T>G XP_011543841.1:p.Ser171Ala
XM_011545539.2:c.511T>G XP_011543841.1:p.Ser171Ala