Canonical Allele Identifier: CA10354041

Gene: PIGA

Linked Data

• ClinVar Variation Id: 383130
• ClinVar RCV Id: RCV000435746 ; RCV000992536 ; RCV003970159
• dbSNP Id: rs142178534
• ExAC: X:15339621 C / A
• gnomAD v2: X-15339621-C-A
• gnomAD v3: X-15321499-C-A
• gnomAD v4: X-15321499-C-A
• MyVariant Identifiers: chrX:g.15339621C>A (hg19) ; chrX:g.15321499C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.15321499C>A , CM000685.2:g.15321499C>A	GRCh38
NC_000023.10:g.15339621C>A , CM000685.1:g.15339621C>A	GRCh37
NC_000023.9:g.15249542C>A	NCBI36
NG_009786.1:g.19040G>T , LRG_160:g.19040G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000333590.6:c.*7G>T MANE Select	ENSP00000369820.3:n.*7G>T
ENST00000637296.1:c.*7G>T	ENSP00000490545.1:n.*7G>T
ENST00000637626.1:c.*943G>T	ENSP00000489928.1:n.*943G>T
ENST00000638131.1:c.*723G>T	ENSP00000490483.1:n.*723G>T
ENST00000333590.5:c.*7G>T	ENSP00000369820.3:n.*7G>T
ENST00000482148.6:c.*7G>T	ENSP00000489528.1:n.*7G>T
ENST00000542278.6:c.*7G>T	ENSP00000442653.2:n.*7G>T
ENST00000634582.1:c.*7G>T	ENSP00000489540.1:n.*7G>T
ENST00000635045.1:n.1695G>T
ENST00000635598.1:c.*731G>T	ENSP00000489207.1:n.*731G>T
ENST00000635631.1:n.803G>T
NM_002641.3:c.*7G>T , LRG_160t1:c.*7G>T	NP_002632.1:n.*7G>T
NM_020473.3:c.*7G>T	NP_065206.3:n.*7G>T
NR_033835.1:n.1204G>T
NR_033836.1:n.920G>T
XM_011545539.1:c.*7G>T	XP_011543841.1:n.*7G>T
XM_011545539.2:c.*7G>T	XP_011543841.1:n.*7G>T
NM_002641.4:c.*7G>T MANE Select	NP_002632.1:n.*7G>T