Canonical Allele Identifier: CA658799617
Community Standard Title: NM_002641.4(PIGA):c.-63+17C>T
Gene: PIGA HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.15335484G>A , CM000685.2:g.15335484G>A GRCh38
NC_000023.10:g.15353606G>A , CM000685.1:g.15353606G>A GRCh37
NC_000023.9:g.15263527G>A NCBI36
NG_009786.1:g.5055C>T , LRG_160:g.5055C>T

Transcript Alleles

HGVS Amino-acid Change
NM_002641.4:c.-63+17C>T MANE Select NP_002632.1:n.-63+17C>T
ENST00000333590.6:c.-63+17C>T MANE Select ENSP00000369820.3:n.-63+17C>T
NM_002641.3:c.-63+17C>T , LRG_160t1:c.-63+17C>T NP_002632.1:n.-63+17C>T
NM_020473.3:c.13+17C>T NP_065206.3:n.13+17C>T
NR_033835.1:n.54+17C>T
NR_033836.1:n.54+17C>T
ENST00000333590.5:c.-63+17C>T ENSP00000369820.3:n.-63+17C>T
ENST00000474662.2:n.23+17C>T
ENST00000482148.6:c.-63+17C>T ENSP00000489528.1:n.-63+17C>T
ENST00000634582.1:c.13+17C>T ENSP00000489540.1:n.13+17C>T
ENST00000634640.1:c.-350+17C>T ENSP00000489083.1:n.-350+17C>T
ENST00000635045.1:n.23+17C>T
ENST00000635598.1:c.-63+17C>T ENSP00000489207.1:n.-63+17C>T
ENST00000637296.1:c.-434+17C>T ENSP00000490545.1:n.-434+17C>T
ENST00000637626.1:c.-63+17C>T ENSP00000489928.1:n.-63+17C>T
ENST00000638131.1:c.-63+17C>T ENSP00000490483.1:n.-63+17C>T