Canonical Allele Identifier: CA412336104

Gene: PIGA

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.15324867A>G , CM000685.2:g.15324867A>G	GRCh38
NC_000023.10:g.15342989A>G , CM000685.1:g.15342989A>G	GRCh37
NC_000023.9:g.15252910A>G	NCBI36
NG_009786.1:g.15672T>C , LRG_160:g.15672T>C

Transcript Alleles

HGVS	Amino-acid Change
NM_002641.4:c.986T>C MANE Select	NP_002632.1:p.Val329Ala
ENST00000333590.6:c.986T>C MANE Select	ENSP00000369820.3:p.Val329Ala
NM_002641.3:c.986T>C , LRG_160t1:c.986T>C	NP_002632.1:p.Val329Ala
NM_020473.3:c.284T>C	NP_065206.3:p.Val95Ala
NR_033835.1:n.728T>C
NR_033836.1:n.444T>C
ENST00000333590.5:c.986T>C	ENSP00000369820.3:p.Val329Ala
ENST00000463173.1:n.258T>C
ENST00000475746.1:c.81+153T>C	ENSP00000488970.1:n.81+153T>C
ENST00000482148.6:c.479T>C	ENSP00000489528.1:p.Val160Ala
ENST00000542278.6:c.986T>C	ENSP00000442653.2:p.Val329Ala
ENST00000634286.1:c.599T>C	ENSP00000489491.1:n.599T>C
ENST00000634582.1:c.284T>C	ENSP00000489540.1:p.Val95Ala
ENST00000634640.1:c.41T>C	ENSP00000489083.1:p.Val14Ala
ENST00000635045.1:n.1219T>C
ENST00000635480.1:n.608T>C
ENST00000635598.1:c.*255T>C	ENSP00000489207.1:n.*255T>C
ENST00000635631.1:n.327T>C
ENST00000637296.1:c.41T>C	ENSP00000490545.1:p.Val14Ala
ENST00000637626.1:c.*467T>C	ENSP00000489928.1:n.*467T>C
ENST00000638131.1:c.*247T>C	ENSP00000490483.1:n.*247T>C
XM_011545539.1:c.293T>C	XP_011543841.1:p.Val98Ala
XM_011545539.2:c.293T>C	XP_011543841.1:p.Val98Ala