Canonical Allele Identifier: CA1140943223

Gene: ALG6

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.63415951T= , CM000663.2:g.63415951T=	GRCh38
NC_000001.10:g.63881622T= , CM000663.1:g.63881622T=	GRCh37
NC_000001.9:g.63654210T=	NCBI36
NG_008925.2:g.53362T=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000263440.6:c.981T= MANE Select	ENSP00000263440.5:p.Phe327=
ENST00000603108.6:c.*130T=	ENSP00000473934.2:n.*130T=
ENST00000647818.1:c.*287T=	ENSP00000497667.1:n.*287T=
ENST00000648964.1:c.*710T=	ENSP00000497828.1:n.*710T=
ENST00000649570.1:c.*403T=	ENSP00000497742.1:n.*403T=
ENST00000650494.1:c.*338T=	ENSP00000497170.1:n.*338T=
ENST00000263440.4:c.987T=	ENSP00000263440.4:p.Phe329=
ENST00000371108.8:c.981T=	ENSP00000360149.4:p.Phe327=
ENST00000465969.5:n.570T=
ENST00000603108.5:c.*59T=	ENSP00000473934.1:n.*59T=
NM_013339.3:c.981T=	NP_037471.2:p.Phe327=
NM_013339.4:c.981T= MANE Select	NP_037471.2:p.Phe327=