Canonical Allele Identifier: CA412339858

Gene: PIGA

Linked Data

• dbSNP Id: rs1569179986
• gnomAD v4: X-15331487-C-A
• MyVariant Identifiers: chrX:g.15349609C>A (hg19) ; chrX:g.15331487C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.15331487C>A , CM000685.2:g.15331487C>A	GRCh38
NC_000023.10:g.15349609C>A , CM000685.1:g.15349609C>A	GRCh37
NC_000023.9:g.15259530C>A	NCBI36
NG_009786.1:g.9052G>T , LRG_160:g.9052G>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000333590.6:c.444G>T MANE Select	ENSP00000369820.3:p.Gln148His
ENST00000637296.1:c.-314-188G>T	ENSP00000490545.1:n.-314-188G>T
ENST00000637626.1:c.444G>T	ENSP00000489928.1:p.Gln148His
ENST00000638131.1:c.111+333G>T	ENSP00000490483.1:n.111+333G>T
ENST00000333590.5:c.444G>T	ENSP00000369820.3:p.Gln148His
ENST00000474662.2:n.142+387G>T
ENST00000482148.6:c.341+103G>T	ENSP00000489528.1:n.341+103G>T
ENST00000542278.6:c.444G>T	ENSP00000442653.2:p.Gln148His
ENST00000634286.1:c.134+103G>T	ENSP00000489491.1:n.134+103G>T
ENST00000634582.1:c.13+4014G>T	ENSP00000489540.1:n.13+4014G>T
ENST00000634640.1:c.-231+387G>T	ENSP00000489083.1:n.-231+387G>T
ENST00000635045.1:n.529G>T
ENST00000635543.1:c.444G>T	ENSP00000489205.1:p.Gln148His
ENST00000635598.1:c.341+103G>T	ENSP00000489207.1:n.341+103G>T
NM_002641.3:c.444G>T , LRG_160t1:c.444G>T	NP_002632.1:p.Gln148His
NM_020473.3:c.13+4014G>T	NP_065206.3:n.13+4014G>T
NR_033835.1:n.457+103G>T
NR_033836.1:n.173+387G>T
NM_002641.4:c.444G>T MANE Select	NP_002632.1:p.Gln148His