Canonical Allele Identifier: CA515624853

Gene: PIGA

Linked Data

• ClinVar Variation Id: 1111210
• ClinVar RCV Id: RCV001437726
• dbSNP Id: rs2147723672
• MyVariant Identifiers: chrX:g.15349612A>G (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.15331490A>G , CM000685.2:g.15331490A>G	GRCh38
NC_000023.10:g.15349612A>G , CM000685.1:g.15349612A>G	GRCh37
NC_000023.9:g.15259533A>G	NCBI36
NG_009786.1:g.9049T>C , LRG_160:g.9049T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000333590.6:c.441T>C MANE Select	ENSP00000369820.3:p.Leu147=
ENST00000637296.1:c.-314-191T>C	ENSP00000490545.1:n.-314-191T>C
ENST00000637626.1:c.441T>C	ENSP00000489928.1:p.Leu147=
ENST00000638131.1:c.111+330T>C	ENSP00000490483.1:n.111+330T>C
ENST00000333590.5:c.441T>C	ENSP00000369820.3:p.Leu147=
ENST00000474662.2:n.142+384T>C
ENST00000482148.6:c.341+100T>C	ENSP00000489528.1:n.341+100T>C
ENST00000542278.6:c.441T>C	ENSP00000442653.2:p.Leu147=
ENST00000634286.1:c.134+100T>C	ENSP00000489491.1:n.134+100T>C
ENST00000634582.1:c.13+4011T>C	ENSP00000489540.1:n.13+4011T>C
ENST00000634640.1:c.-231+384T>C	ENSP00000489083.1:n.-231+384T>C
ENST00000635045.1:n.526T>C
ENST00000635543.1:c.441T>C	ENSP00000489205.1:p.Leu147=
ENST00000635598.1:c.341+100T>C	ENSP00000489207.1:n.341+100T>C
NM_002641.3:c.441T>C , LRG_160t1:c.441T>C	NP_002632.1:p.Leu147=
NM_020473.3:c.13+4011T>C	NP_065206.3:n.13+4011T>C
NR_033835.1:n.457+100T>C
NR_033836.1:n.173+384T>C
NM_002641.4:c.441T>C MANE Select	NP_002632.1:p.Leu147=