Canonical Allele Identifier: CA10354174

Gene: PIGA

Linked Data

• ClinVar Variation Id: 386385
• ClinVar RCV Id: RCV000649047 ; RCV001712260 ; RCV002436307 ; RCV003942406
• dbSNP Id: rs61730284
• ExAC: X:15349780 G / A
• gnomAD v2: X-15349780-G-A
• gnomAD v3: X-15331658-G-A
• gnomAD v4: X-15331658-G-A
• MyVariant Identifiers: chrX:g.15349780G>A (hg19) ; chrX:g.15331658G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.15331658G>A , CM000685.2:g.15331658G>A	GRCh38
NC_000023.10:g.15349780G>A , CM000685.1:g.15349780G>A	GRCh37
NC_000023.9:g.15259701G>A	NCBI36
NG_009786.1:g.8881C>T , LRG_160:g.8881C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000333590.6:c.273C>T MANE Select	ENSP00000369820.3:p.Tyr91=
ENST00000637296.1:c.-315+216C>T	ENSP00000490545.1:n.-315+216C>T
ENST00000637626.1:c.273C>T	ENSP00000489928.1:p.Tyr91=
ENST00000638131.1:c.111+162C>T	ENSP00000490483.1:n.111+162C>T
ENST00000333590.5:c.273C>T	ENSP00000369820.3:p.Tyr91=
ENST00000474662.2:n.142+216C>T
ENST00000482148.6:c.273C>T	ENSP00000489528.1:p.Tyr91=
ENST00000542278.6:c.273C>T	ENSP00000442653.2:p.Tyr91=
ENST00000634286.1:c.66C>T	ENSP00000489491.1:p.Tyr22=
ENST00000634582.1:c.13+3843C>T	ENSP00000489540.1:n.13+3843C>T
ENST00000634640.1:c.-231+216C>T	ENSP00000489083.1:n.-231+216C>T
ENST00000635045.1:n.358C>T
ENST00000635543.1:c.273C>T	ENSP00000489205.1:p.Tyr91=
ENST00000635598.1:c.273C>T	ENSP00000489207.1:p.Tyr91=
NM_002641.3:c.273C>T , LRG_160t1:c.273C>T	NP_002632.1:p.Tyr91=
NM_020473.3:c.13+3843C>T	NP_065206.3:n.13+3843C>T
NR_033835.1:n.389C>T
NR_033836.1:n.173+216C>T
NM_002641.4:c.273C>T MANE Select	NP_002632.1:p.Tyr91=