Canonical Allele Identifier: CA15104695

Gene: ALG6

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.63407200A>G , CM000663.2:g.63407200A>G	GRCh38
NC_000001.10:g.63872871A>G , CM000663.1:g.63872871A>G	GRCh37
NC_000001.9:g.63645459A>G	NCBI36
NG_008925.2:g.44611A>G

Transcript Alleles

HGVS	Amino-acid Change
NM_013339.4:c.494+74A>G MANE Select	NP_037471.2:n.494+74A>G
ENST00000263440.6:c.494+74A>G MANE Select	ENSP00000263440.5:n.494+74A>G
NM_013339.3:c.494+74A>G	NP_037471.2:n.494+74A>G
ENST00000263440.4:c.494+74A>G	ENSP00000263440.4:n.494+74A>G
ENST00000371108.8:c.494+74A>G	ENSP00000360149.4:n.494+74A>G
ENST00000603108.5:c.494+74A>G	ENSP00000473934.1:n.494+74A>G
ENST00000603108.6:c.494+74A>G	ENSP00000473934.2:n.494+74A>G
ENST00000647818.1:c.494+74A>G	ENSP00000497667.1:n.494+74A>G
ENST00000648964.1:c.*223+74A>G	ENSP00000497828.1:n.*223+74A>G
ENST00000649570.1:c.494+74A>G	ENSP00000497742.1:n.494+74A>G
ENST00000650494.1:c.494+74A>G	ENSP00000497170.1:n.494+74A>G