Canonical Allele Identifier: CA2574392393

Gene: ALG6

Linked Data

• ClinVar Variation Id: 2157005
• ClinVar RCV Id: RCV003079476
• gnomAD v4: 1-63414053-C-G

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.63414053C>G , CM000663.2:g.63414053C>G	GRCh38
NC_000001.10:g.63879724C>G , CM000663.1:g.63879724C>G	GRCh37
NC_000001.9:g.63652312C>G	NCBI36
NG_008925.2:g.51464C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000263440.6:c.817-8C>G MANE Select	ENSP00000263440.5:n.817-8C>G
ENST00000603108.6:c.817-8C>G	ENSP00000473934.2:n.817-8C>G
ENST00000647818.1:c.*123-8C>G	ENSP00000497667.1:n.*123-8C>G
ENST00000648964.1:c.*546-8C>G	ENSP00000497828.1:n.*546-8C>G
ENST00000649570.1:c.*249-18C>G	ENSP00000497742.1:n.*249-18C>G
ENST00000650494.1:c.*119-8C>G	ENSP00000497170.1:n.*119-8C>G
ENST00000263440.4:c.823-8C>G	ENSP00000263440.4:n.823-8C>G
ENST00000371108.8:c.817-8C>G	ENSP00000360149.4:n.817-8C>G
ENST00000465969.5:n.398C>G
ENST00000603108.5:c.827-1820C>G	ENSP00000473934.1:n.827-1820C>G
NM_013339.3:c.817-8C>G	NP_037471.2:n.817-8C>G
NM_013339.4:c.817-8C>G MANE Select	NP_037471.2:n.817-8C>G