Canonical Allele Identifier: CA2646021612

Gene: ALG6

Linked Data

• gnomAD v4: 1-63415984-T-C

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.63415984T>C , CM000663.2:g.63415984T>C	GRCh38
NC_000001.10:g.63881655T>C , CM000663.1:g.63881655T>C	GRCh37
NC_000001.9:g.63654243T>C	NCBI36
NG_008925.2:g.53395T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000263440.6:c.987+27T>C MANE Select	ENSP00000263440.5:n.987+27T>C
ENST00000603108.6:c.*136+27T>C	ENSP00000473934.2:n.*136+27T>C
ENST00000647818.1:c.*293+27T>C	ENSP00000497667.1:n.*293+27T>C
ENST00000648964.1:c.*716+27T>C	ENSP00000497828.1:n.*716+27T>C
ENST00000649570.1:c.*409+27T>C	ENSP00000497742.1:n.*409+27T>C
ENST00000650494.1:c.*344+27T>C	ENSP00000497170.1:n.*344+27T>C
ENST00000263440.4:c.993+27T>C	ENSP00000263440.4:n.993+27T>C
ENST00000371108.8:c.987+27T>C	ENSP00000360149.4:n.987+27T>C
ENST00000465969.5:n.576+27T>C
ENST00000603108.5:c.*65+27T>C	ENSP00000473934.1:n.*65+27T>C
NM_013339.3:c.987+27T>C	NP_037471.2:n.987+27T>C
NM_013339.4:c.987+27T>C MANE Select	NP_037471.2:n.987+27T>C