Canonical Allele Identifier: CA1171485576

Gene: ALG6

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.63414062A= , CM000663.2:g.63414062A=	GRCh38
NC_000001.10:g.63879733A= , CM000663.1:g.63879733A=	GRCh37
NC_000001.9:g.63652321A=	NCBI36
NG_008925.2:g.51473A=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000263440.6:c.818A= MANE Select	ENSP00000263440.5:p.Asp273=
ENST00000603108.6:c.818A=	ENSP00000473934.2:p.Asp273=
ENST00000647818.1:c.*124A=	ENSP00000497667.1:n.*124A=
ENST00000648964.1:c.*547A=	ENSP00000497828.1:n.*547A=
ENST00000649570.1:c.*249-9A=	ENSP00000497742.1:n.*249-9A=
ENST00000650494.1:c.*120A=	ENSP00000497170.1:n.*120A=
ENST00000263440.4:c.824A=	ENSP00000263440.4:p.Asp275=
ENST00000371108.8:c.818A=	ENSP00000360149.4:p.Asp273=
ENST00000465969.5:n.407A=
ENST00000603108.5:c.827-1811A=	ENSP00000473934.1:n.827-1811A=
NM_013339.3:c.818A=	NP_037471.2:p.Asp273=
NM_013339.4:c.818A= MANE Select	NP_037471.2:p.Asp273=