Canonical Allele Identifier: CA1171486663

Gene: ALG6

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.63415890T= , CM000663.2:g.63415890T=	GRCh38
NC_000001.10:g.63881561T= , CM000663.1:g.63881561T=	GRCh37
NC_000001.9:g.63654149T=	NCBI36
NG_008925.2:g.53301T=

Transcript Alleles

HGVS	Amino-acid change
ENST00000263440.6:c.920T= MANE Select	ENSP00000263440.5:p.Leu307=
ENST00000603108.6:c.*69T=	ENSP00000473934.2:n.*69T=
ENST00000647818.1:c.*226T=	ENSP00000497667.1:n.*226T=
ENST00000648964.1:c.*649T=	ENSP00000497828.1:n.*649T=
ENST00000649570.1:c.*342T=	ENSP00000497742.1:n.*342T=
ENST00000650494.1:c.*277T=	ENSP00000497170.1:n.*277T=
ENST00000263440.4:c.926T=	ENSP00000263440.4:p.Leu309=
ENST00000371108.8:c.920T=	ENSP00000360149.4:p.Leu307=
ENST00000465969.5:n.509T=
ENST00000603108.5:c.844T=	ENSP00000473934.1:p.Ter282=
NM_013339.3:c.920T=	NP_037471.2:p.Leu307=
NM_013339.4:c.920T= MANE Select	NP_037471.2:p.Leu307=