Canonical Allele Identifier: CA412340913

Gene: PIGA

Linked Data

• MyVariant Identifiers: chrX:g.15349800T>G (hg19) ; chrX:g.15331678T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.15331678T>G , CM000685.2:g.15331678T>G	GRCh38
NC_000023.10:g.15349800T>G , CM000685.1:g.15349800T>G	GRCh37
NC_000023.9:g.15259721T>G	NCBI36
NG_009786.1:g.8861A>C , LRG_160:g.8861A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000333590.6:c.253A>C MANE Select	ENSP00000369820.3:p.Ser85Arg
ENST00000637296.1:c.-315+196A>C	ENSP00000490545.1:n.-315+196A>C
ENST00000637626.1:c.253A>C	ENSP00000489928.1:p.Ser85Arg
ENST00000638131.1:c.111+142A>C	ENSP00000490483.1:n.111+142A>C
ENST00000333590.5:c.253A>C	ENSP00000369820.3:p.Ser85Arg
ENST00000474662.2:n.142+196A>C
ENST00000482148.6:c.253A>C	ENSP00000489528.1:p.Ser85Arg
ENST00000542278.6:c.253A>C	ENSP00000442653.2:p.Ser85Arg
ENST00000634286.1:c.46A>C	ENSP00000489491.1:p.Ser16Arg
ENST00000634582.1:c.13+3823A>C	ENSP00000489540.1:n.13+3823A>C
ENST00000634640.1:c.-231+196A>C	ENSP00000489083.1:n.-231+196A>C
ENST00000635045.1:n.338A>C
ENST00000635543.1:c.253A>C	ENSP00000489205.1:p.Ser85Arg
ENST00000635598.1:c.253A>C	ENSP00000489207.1:p.Ser85Arg
NM_002641.3:c.253A>C , LRG_160t1:c.253A>C	NP_002632.1:p.Ser85Arg
NM_020473.3:c.13+3823A>C	NP_065206.3:n.13+3823A>C
NR_033835.1:n.369A>C
NR_033836.1:n.173+196A>C
NM_002641.4:c.253A>C MANE Select	NP_002632.1:p.Ser85Arg