Canonical Allele Identifier: CA412339698

Gene: PIGA

Linked Data

• dbSNP Id: rs1922152723
• MyVariant Identifiers: chrX:g.15349587G>C (hg19) ; chrX:g.15331465G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.15331465G>C , CM000685.2:g.15331465G>C	GRCh38
NC_000023.10:g.15349587G>C , CM000685.1:g.15349587G>C	GRCh37
NC_000023.9:g.15259508G>C	NCBI36
NG_009786.1:g.9074C>G , LRG_160:g.9074C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000333590.6:c.466C>G MANE Select	ENSP00000369820.3:p.Leu156Val
ENST00000637296.1:c.-314-166C>G	ENSP00000490545.1:n.-314-166C>G
ENST00000637626.1:c.466C>G	ENSP00000489928.1:p.Leu156Val
ENST00000638131.1:c.111+355C>G	ENSP00000490483.1:n.111+355C>G
ENST00000333590.5:c.466C>G	ENSP00000369820.3:p.Leu156Val
ENST00000474662.2:n.142+409C>G
ENST00000482148.6:c.341+125C>G	ENSP00000489528.1:n.341+125C>G
ENST00000542278.6:c.466C>G	ENSP00000442653.2:p.Leu156Val
ENST00000634286.1:c.134+125C>G	ENSP00000489491.1:n.134+125C>G
ENST00000634582.1:c.13+4036C>G	ENSP00000489540.1:n.13+4036C>G
ENST00000634640.1:c.-231+409C>G	ENSP00000489083.1:n.-231+409C>G
ENST00000635045.1:n.551C>G
ENST00000635598.1:c.341+125C>G	ENSP00000489207.1:n.341+125C>G
NM_002641.3:c.466C>G , LRG_160t1:c.466C>G	NP_002632.1:p.Leu156Val
NM_020473.3:c.13+4036C>G	NP_065206.3:n.13+4036C>G
NR_033835.1:n.457+125C>G
NR_033836.1:n.173+409C>G
NM_002641.4:c.466C>G MANE Select	NP_002632.1:p.Leu156Val