Canonical Allele Identifier: CA16043216

Gene: PIGA

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.15331869C>A , CM000685.2:g.15331869C>A	GRCh38
NC_000023.10:g.15349991C>A , CM000685.1:g.15349991C>A	GRCh37
NC_000023.9:g.15259912C>A	NCBI36
NG_009786.1:g.8670G>T , LRG_160:g.8670G>T

Transcript Alleles

HGVS	Amino-acid Change
NM_002641.4:c.62G>T MANE Select	NP_002632.1:p.Ser21Ile
ENST00000333590.6:c.62G>T MANE Select	ENSP00000369820.3:p.Ser21Ile
NM_002641.3:c.62G>T , LRG_160t1:c.62G>T	NP_002632.1:p.Ser21Ile
NM_020473.3:c.13+3632G>T	NP_065206.3:n.13+3632G>T
NR_033835.1:n.178G>T
NR_033836.1:n.173+5G>T
ENST00000333590.5:c.62G>T	ENSP00000369820.3:p.Ser21Ile
ENST00000474662.2:n.142+5G>T
ENST00000482148.6:c.62G>T	ENSP00000489528.1:p.Ser21Ile
ENST00000542278.6:c.62G>T	ENSP00000442653.2:p.Ser21Ile
ENST00000634582.1:c.13+3632G>T	ENSP00000489540.1:n.13+3632G>T
ENST00000634640.1:c.-231+5G>T	ENSP00000489083.1:n.-231+5G>T
ENST00000635045.1:n.147G>T
ENST00000635543.1:c.62G>T	ENSP00000489205.1:p.Ser21Ile
ENST00000635598.1:c.62G>T	ENSP00000489207.1:p.Ser21Ile
ENST00000637296.1:c.-315+5G>T	ENSP00000490545.1:n.-315+5G>T
ENST00000637626.1:c.62G>T	ENSP00000489928.1:p.Ser21Ile
ENST00000638131.1:c.62G>T	ENSP00000490483.1:p.Ser21Ile