Canonical Allele Identifier: CA515624864

Gene: PIGA

Linked Data

• dbSNP Id: rs1208287177
• gnomAD v3: X-15331508-G-A
• gnomAD v4: X-15331508-G-A
• COSMIC: COSM4108041
• MyVariant Identifiers: chrX:g.15349630G>A (hg19) ; chrX:g.15331508G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.15331508G>A , CM000685.2:g.15331508G>A	GRCh38
NC_000023.10:g.15349630G>A , CM000685.1:g.15349630G>A	GRCh37
NC_000023.9:g.15259551G>A	NCBI36
NG_009786.1:g.9031C>T , LRG_160:g.9031C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000333590.6:c.423C>T MANE Select	ENSP00000369820.3:p.His141=
ENST00000637296.1:c.-314-209C>T	ENSP00000490545.1:n.-314-209C>T
ENST00000637626.1:c.423C>T	ENSP00000489928.1:p.His141=
ENST00000638131.1:c.111+312C>T	ENSP00000490483.1:n.111+312C>T
ENST00000333590.5:c.423C>T	ENSP00000369820.3:p.His141=
ENST00000474662.2:n.142+366C>T
ENST00000482148.6:c.341+82C>T	ENSP00000489528.1:n.341+82C>T
ENST00000542278.6:c.423C>T	ENSP00000442653.2:p.His141=
ENST00000634286.1:c.134+82C>T	ENSP00000489491.1:n.134+82C>T
ENST00000634582.1:c.13+3993C>T	ENSP00000489540.1:n.13+3993C>T
ENST00000634640.1:c.-231+366C>T	ENSP00000489083.1:n.-231+366C>T
ENST00000635045.1:n.508C>T
ENST00000635543.1:c.423C>T	ENSP00000489205.1:p.His141=
ENST00000635598.1:c.341+82C>T	ENSP00000489207.1:n.341+82C>T
NM_002641.3:c.423C>T , LRG_160t1:c.423C>T	NP_002632.1:p.His141=
NM_020473.3:c.13+3993C>T	NP_065206.3:n.13+3993C>T
NR_033835.1:n.457+82C>T
NR_033836.1:n.173+366C>T
NM_002641.4:c.423C>T MANE Select	NP_002632.1:p.His141=