Canonical Allele Identifier: CA1141809108

Gene: ALG6

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.63415933T= , CM000663.2:g.63415933T=	GRCh38
NC_000001.10:g.63881604T= , CM000663.1:g.63881604T=	GRCh37
NC_000001.9:g.63654192T=	NCBI36
NG_008925.2:g.53344T=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000263440.6:c.963T= MANE Select	ENSP00000263440.5:p.Ser321=
ENST00000603108.6:c.*112T=	ENSP00000473934.2:n.*112T=
ENST00000647818.1:c.*269T=	ENSP00000497667.1:n.*269T=
ENST00000648964.1:c.*692T=	ENSP00000497828.1:n.*692T=
ENST00000649570.1:c.*385T=	ENSP00000497742.1:n.*385T=
ENST00000650494.1:c.*320T=	ENSP00000497170.1:n.*320T=
ENST00000263440.4:c.969T=	ENSP00000263440.4:p.Ser323=
ENST00000371108.8:c.963T=	ENSP00000360149.4:p.Ser321=
ENST00000465969.5:n.552T=
ENST00000603108.5:c.*41T=	ENSP00000473934.1:n.*41T=
NM_013339.3:c.963T=	NP_037471.2:p.Ser321=
NM_013339.4:c.963T= MANE Select	NP_037471.2:p.Ser321=