Canonical Allele Identifier: CA10354172

Gene: PIGA

Linked Data

• ClinVar Variation Id: 1410823
• ClinVar RCV Id: RCV001918688
• dbSNP Id: rs146801580
• ExAC: X:15349767 C / G
• gnomAD v2: X-15349767-C-G
• gnomAD v3: X-15331645-C-G
• gnomAD v4: X-15331645-C-G
• MyVariant Identifiers: chrX:g.15349767C>G (hg19) ; chrX:g.15331645C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.15331645C>G , CM000685.2:g.15331645C>G	GRCh38
NC_000023.10:g.15349767C>G , CM000685.1:g.15349767C>G	GRCh37
NC_000023.9:g.15259688C>G	NCBI36
NG_009786.1:g.8894G>C , LRG_160:g.8894G>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000333590.6:c.286G>C MANE Select	ENSP00000369820.3:p.Val96Leu
ENST00000637296.1:c.-315+229G>C	ENSP00000490545.1:n.-315+229G>C
ENST00000637626.1:c.286G>C	ENSP00000489928.1:p.Val96Leu
ENST00000638131.1:c.111+175G>C	ENSP00000490483.1:n.111+175G>C
ENST00000333590.5:c.286G>C	ENSP00000369820.3:p.Val96Leu
ENST00000474662.2:n.142+229G>C
ENST00000482148.6:c.286G>C	ENSP00000489528.1:p.Val96Leu
ENST00000542278.6:c.286G>C	ENSP00000442653.2:p.Val96Leu
ENST00000634286.1:c.79G>C	ENSP00000489491.1:p.Val27Leu
ENST00000634582.1:c.13+3856G>C	ENSP00000489540.1:n.13+3856G>C
ENST00000634640.1:c.-231+229G>C	ENSP00000489083.1:n.-231+229G>C
ENST00000635045.1:n.371G>C
ENST00000635543.1:c.286G>C	ENSP00000489205.1:p.Val96Leu
ENST00000635598.1:c.286G>C	ENSP00000489207.1:p.Val96Leu
NM_002641.3:c.286G>C , LRG_160t1:c.286G>C	NP_002632.1:p.Val96Leu
NM_020473.3:c.13+3856G>C	NP_065206.3:n.13+3856G>C
NR_033835.1:n.402G>C
NR_033836.1:n.173+229G>C
NM_002641.4:c.286G>C MANE Select	NP_002632.1:p.Val96Leu