Canonical Allele Identifier: CA1867298280

Gene: ALG2

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.99221659A= , CM000671.2:g.99221659A=	GRCh38
NC_000009.11:g.101983941A= , CM000671.1:g.101983941A=	GRCh37
NC_000009.10:g.101023762A=	NCBI36
NG_008928.1:g.5306T=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000476832.2:c.236T= MANE Select	ENSP00000417764.1:p.Leu79=
ENST00000238477.5:c.236T=	ENSP00000432675.2:p.Leu79=
ENST00000476832.1:c.236T=	ENSP00000417764.1:p.Leu79=
NM_033087.3:c.236T=	NP_149078.1:p.Leu79=
NR_024532.1:n.306T=
NM_033087.4:c.236T= MANE Select	NP_149078.1:p.Leu79=
NR_024532.2:n.284T=