Canonical Allele Identifier: CA1140029825

Gene: ALG6

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.63415881C= , CM000663.2:g.63415881C=	GRCh38
NC_000001.10:g.63881552C= , CM000663.1:g.63881552C=	GRCh37
NC_000001.9:g.63654140C=	NCBI36
NG_008925.2:g.53292C=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000263440.6:c.911C= MANE Select	ENSP00000263440.5:p.Ser304=
ENST00000603108.6:c.*60C=	ENSP00000473934.2:n.*60C=
ENST00000647818.1:c.*217C=	ENSP00000497667.1:n.*217C=
ENST00000648964.1:c.*640C=	ENSP00000497828.1:n.*640C=
ENST00000649570.1:c.*333C=	ENSP00000497742.1:n.*333C=
ENST00000650494.1:c.*268C=	ENSP00000497170.1:n.*268C=
ENST00000263440.4:c.917C=	ENSP00000263440.4:p.Ser306=
ENST00000371108.8:c.911C=	ENSP00000360149.4:p.Ser304=
ENST00000465969.5:n.500C=
ENST00000603108.5:c.835C=	ENSP00000473934.1:p.Leu279=
NM_013339.3:c.911C=	NP_037471.2:p.Ser304=
NM_013339.4:c.911C= MANE Select	NP_037471.2:p.Ser304=