Canonical Allele Identifier: CA412340081

Gene: PIGA

Linked Data

• MyVariant Identifiers: chrX:g.15349637A>G (hg19) ; chrX:g.15331515A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.15331515A>G , CM000685.2:g.15331515A>G	GRCh38
NC_000023.10:g.15349637A>G , CM000685.1:g.15349637A>G	GRCh37
NC_000023.9:g.15259558A>G	NCBI36
NG_009786.1:g.9024T>C , LRG_160:g.9024T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000333590.6:c.416T>C MANE Select	ENSP00000369820.3:p.Leu139Pro
ENST00000637296.1:c.-314-216T>C	ENSP00000490545.1:n.-314-216T>C
ENST00000637626.1:c.416T>C	ENSP00000489928.1:p.Leu139Pro
ENST00000638131.1:c.111+305T>C	ENSP00000490483.1:n.111+305T>C
ENST00000333590.5:c.416T>C	ENSP00000369820.3:p.Leu139Pro
ENST00000474662.2:n.142+359T>C
ENST00000482148.6:c.341+75T>C	ENSP00000489528.1:n.341+75T>C
ENST00000542278.6:c.416T>C	ENSP00000442653.2:p.Leu139Pro
ENST00000634286.1:c.134+75T>C	ENSP00000489491.1:n.134+75T>C
ENST00000634582.1:c.13+3986T>C	ENSP00000489540.1:n.13+3986T>C
ENST00000634640.1:c.-231+359T>C	ENSP00000489083.1:n.-231+359T>C
ENST00000635045.1:n.501T>C
ENST00000635543.1:c.416T>C	ENSP00000489205.1:p.Leu139Pro
ENST00000635598.1:c.341+75T>C	ENSP00000489207.1:n.341+75T>C
NM_002641.3:c.416T>C , LRG_160t1:c.416T>C	NP_002632.1:p.Leu139Pro
NM_020473.3:c.13+3986T>C	NP_065206.3:n.13+3986T>C
NR_033835.1:n.457+75T>C
NR_033836.1:n.173+359T>C
NM_002641.4:c.416T>C MANE Select	NP_002632.1:p.Leu139Pro