Canonical Allele Identifier: CA1171484086

Gene: ALG6

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.63412069T>A , CM000663.2:g.63412069T>A	GRCh38
NC_000001.10:g.63877740T>A , CM000663.1:g.63877740T>A	GRCh37
NC_000001.9:g.63650328T>A	NCBI36
NG_008925.2:g.49480T>A

Transcript Alleles

HGVS	Amino-acid Change
NM_013339.4:c.816+8T>A MANE Select	NP_037471.2:n.816+8T>A
ENST00000263440.6:c.816+8T>A MANE Select	ENSP00000263440.5:n.816+8T>A
NM_013339.3:c.816+8T>A	NP_037471.2:n.816+8T>A
ENST00000263440.4:c.822+8T>A	ENSP00000263440.4:n.822+8T>A
ENST00000371108.8:c.816+8T>A	ENSP00000360149.4:n.816+8T>A
ENST00000603108.5:c.826+4T>A	ENSP00000473934.1:n.826+4T>A
ENST00000603108.6:c.816+8T>A	ENSP00000473934.2:n.816+8T>A
ENST00000647818.1:c.*122+8T>A	ENSP00000497667.1:n.*122+8T>A
ENST00000648964.1:c.*545+8T>A	ENSP00000497828.1:n.*545+8T>A
ENST00000649570.1:c.*248+8T>A	ENSP00000497742.1:n.*248+8T>A
ENST00000650494.1:c.*118+8T>A	ENSP00000497170.1:n.*118+8T>A