Canonical Allele Identifier: CA412339980

Gene: PIGA

Linked Data

• MyVariant Identifiers: chrX:g.15349624C>G (hg19) ; chrX:g.15331502C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.15331502C>G , CM000685.2:g.15331502C>G	GRCh38
NC_000023.10:g.15349624C>G , CM000685.1:g.15349624C>G	GRCh37
NC_000023.9:g.15259545C>G	NCBI36
NG_009786.1:g.9037G>C , LRG_160:g.9037G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000333590.6:c.429G>C MANE Select	ENSP00000369820.3:p.Lys143Asn
ENST00000637296.1:c.-314-203G>C	ENSP00000490545.1:n.-314-203G>C
ENST00000637626.1:c.429G>C	ENSP00000489928.1:p.Lys143Asn
ENST00000638131.1:c.111+318G>C	ENSP00000490483.1:n.111+318G>C
ENST00000333590.5:c.429G>C	ENSP00000369820.3:p.Lys143Asn
ENST00000474662.2:n.142+372G>C
ENST00000482148.6:c.341+88G>C	ENSP00000489528.1:n.341+88G>C
ENST00000542278.6:c.429G>C	ENSP00000442653.2:p.Lys143Asn
ENST00000634286.1:c.134+88G>C	ENSP00000489491.1:n.134+88G>C
ENST00000634582.1:c.13+3999G>C	ENSP00000489540.1:n.13+3999G>C
ENST00000634640.1:c.-231+372G>C	ENSP00000489083.1:n.-231+372G>C
ENST00000635045.1:n.514G>C
ENST00000635543.1:c.429G>C	ENSP00000489205.1:p.Lys143Asn
ENST00000635598.1:c.341+88G>C	ENSP00000489207.1:n.341+88G>C
NM_002641.3:c.429G>C , LRG_160t1:c.429G>C	NP_002632.1:p.Lys143Asn
NM_020473.3:c.13+3999G>C	NP_065206.3:n.13+3999G>C
NR_033835.1:n.457+88G>C
NR_033836.1:n.173+372G>C
NM_002641.4:c.429G>C MANE Select	NP_002632.1:p.Lys143Asn