Canonical Allele Identifier: CA1171486715

Gene: ALG6

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.63415938A= , CM000663.2:g.63415938A=	GRCh38
NC_000001.10:g.63881609A= , CM000663.1:g.63881609A=	GRCh37
NC_000001.9:g.63654197A=	NCBI36
NG_008925.2:g.53349A=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000263440.6:c.968A= MANE Select	ENSP00000263440.5:p.Lys323=
ENST00000603108.6:c.*117A=	ENSP00000473934.2:n.*117A=
ENST00000647818.1:c.*274A=	ENSP00000497667.1:n.*274A=
ENST00000648964.1:c.*697A=	ENSP00000497828.1:n.*697A=
ENST00000649570.1:c.*390A=	ENSP00000497742.1:n.*390A=
ENST00000650494.1:c.*325A=	ENSP00000497170.1:n.*325A=
ENST00000263440.4:c.974A=	ENSP00000263440.4:p.Lys325=
ENST00000371108.8:c.968A=	ENSP00000360149.4:p.Lys323=
ENST00000465969.5:n.557A=
ENST00000603108.5:c.*46A=	ENSP00000473934.1:n.*46A=
NM_013339.3:c.968A=	NP_037471.2:p.Lys323=
NM_013339.4:c.968A= MANE Select	NP_037471.2:p.Lys323=