Canonical Allele Identifier: CA2739268075

Gene: PIGA

Linked Data

• ClinVar Variation Id: 2861305
• ClinVar RCV Id: RCV003644663

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.15321789C>A , CM000685.2:g.15321789C>A	GRCh38
NC_000023.10:g.15339911C>A , CM000685.1:g.15339911C>A	GRCh37
NC_000023.9:g.15249832C>A	NCBI36
NG_009786.1:g.18750G>T , LRG_160:g.18750G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000333590.6:c.1189-17G>T MANE Select	ENSP00000369820.3:n.1189-17G>T
ENST00000637296.1:c.244-17G>T	ENSP00000490545.1:n.244-17G>T
ENST00000637626.1:c.*670-17G>T	ENSP00000489928.1:n.*670-17G>T
ENST00000638131.1:c.*450-17G>T	ENSP00000490483.1:n.*450-17G>T
ENST00000333590.5:c.1189-17G>T	ENSP00000369820.3:n.1189-17G>T
ENST00000463173.1:n.461-17G>T
ENST00000475746.1:c.82-17G>T	ENSP00000488970.1:n.82-17G>T
ENST00000482148.6:c.682-17G>T	ENSP00000489528.1:n.682-17G>T
ENST00000542278.6:c.1189-17G>T	ENSP00000442653.2:n.1189-17G>T
ENST00000634582.1:c.487-17G>T	ENSP00000489540.1:n.487-17G>T
ENST00000634640.1:c.244-17G>T	ENSP00000489083.1:n.244-17G>T
ENST00000635045.1:n.1422-17G>T
ENST00000635598.1:c.*458-17G>T	ENSP00000489207.1:n.*458-17G>T
ENST00000635631.1:n.530-17G>T
NM_002641.3:c.1189-17G>T , LRG_160t1:c.1189-17G>T	NP_002632.1:n.1189-17G>T
NM_020473.3:c.487-17G>T	NP_065206.3:n.487-17G>T
NR_033835.1:n.931-17G>T
NR_033836.1:n.647-17G>T
XM_011545539.1:c.496-17G>T	XP_011543841.1:n.496-17G>T
XM_011545539.2:c.496-17G>T	XP_011543841.1:n.496-17G>T
NM_002641.4:c.1189-17G>T MANE Select	NP_002632.1:n.1189-17G>T