Canonical Allele Identifier: CA412339913

Gene: PIGA

Linked Data

• dbSNP Id: rs2147723680
• MyVariant Identifiers: chrX:g.15349617C>G (hg19) ; chrX:g.15331495C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.15331495C>G , CM000685.2:g.15331495C>G	GRCh38
NC_000023.10:g.15349617C>G , CM000685.1:g.15349617C>G	GRCh37
NC_000023.9:g.15259538C>G	NCBI36
NG_009786.1:g.9044G>C , LRG_160:g.9044G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000333590.6:c.436G>C MANE Select	ENSP00000369820.3:p.Gly146Arg
ENST00000637296.1:c.-314-196G>C	ENSP00000490545.1:n.-314-196G>C
ENST00000637626.1:c.436G>C	ENSP00000489928.1:p.Gly146Arg
ENST00000638131.1:c.111+325G>C	ENSP00000490483.1:n.111+325G>C
ENST00000333590.5:c.436G>C	ENSP00000369820.3:p.Gly146Arg
ENST00000474662.2:n.142+379G>C
ENST00000482148.6:c.341+95G>C	ENSP00000489528.1:n.341+95G>C
ENST00000542278.6:c.436G>C	ENSP00000442653.2:p.Gly146Arg
ENST00000634286.1:c.134+95G>C	ENSP00000489491.1:n.134+95G>C
ENST00000634582.1:c.13+4006G>C	ENSP00000489540.1:n.13+4006G>C
ENST00000634640.1:c.-231+379G>C	ENSP00000489083.1:n.-231+379G>C
ENST00000635045.1:n.521G>C
ENST00000635543.1:c.436G>C	ENSP00000489205.1:p.Gly146Arg
ENST00000635598.1:c.341+95G>C	ENSP00000489207.1:n.341+95G>C
NM_002641.3:c.436G>C , LRG_160t1:c.436G>C	NP_002632.1:p.Gly146Arg
NM_020473.3:c.13+4006G>C	NP_065206.3:n.13+4006G>C
NR_033835.1:n.457+95G>C
NR_033836.1:n.173+379G>C
NM_002641.4:c.436G>C MANE Select	NP_002632.1:p.Gly146Arg