Canonical Allele Identifier: CA2646021386

Gene: ALG6

Linked Data

• gnomAD v4: 1-63414045-A-G

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.63414045A>G , CM000663.2:g.63414045A>G	GRCh38
NC_000001.10:g.63879716A>G , CM000663.1:g.63879716A>G	GRCh37
NC_000001.9:g.63652304A>G	NCBI36
NG_008925.2:g.51456A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000263440.6:c.817-16A>G MANE Select	ENSP00000263440.5:n.817-16A>G
ENST00000603108.6:c.817-16A>G	ENSP00000473934.2:n.817-16A>G
ENST00000647818.1:c.*123-16A>G	ENSP00000497667.1:n.*123-16A>G
ENST00000648964.1:c.*546-16A>G	ENSP00000497828.1:n.*546-16A>G
ENST00000649570.1:c.*249-26A>G	ENSP00000497742.1:n.*249-26A>G
ENST00000650494.1:c.*119-16A>G	ENSP00000497170.1:n.*119-16A>G
ENST00000263440.4:c.823-16A>G	ENSP00000263440.4:n.823-16A>G
ENST00000371108.8:c.817-16A>G	ENSP00000360149.4:n.817-16A>G
ENST00000465969.5:n.390A>G
ENST00000603108.5:c.827-1828A>G	ENSP00000473934.1:n.827-1828A>G
NM_013339.3:c.817-16A>G	NP_037471.2:n.817-16A>G
NM_013339.4:c.817-16A>G MANE Select	NP_037471.2:n.817-16A>G