Canonical Allele Identifier: CA2646021387

Gene: ALG6

Linked Data

• gnomAD v4: 1-63414046-C-A

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.63414046C>A , CM000663.2:g.63414046C>A	GRCh38
NC_000001.10:g.63879717C>A , CM000663.1:g.63879717C>A	GRCh37
NC_000001.9:g.63652305C>A	NCBI36
NG_008925.2:g.51457C>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000263440.6:c.817-15C>A MANE Select	ENSP00000263440.5:n.817-15C>A
ENST00000603108.6:c.817-15C>A	ENSP00000473934.2:n.817-15C>A
ENST00000647818.1:c.*123-15C>A	ENSP00000497667.1:n.*123-15C>A
ENST00000648964.1:c.*546-15C>A	ENSP00000497828.1:n.*546-15C>A
ENST00000649570.1:c.*249-25C>A	ENSP00000497742.1:n.*249-25C>A
ENST00000650494.1:c.*119-15C>A	ENSP00000497170.1:n.*119-15C>A
ENST00000263440.4:c.823-15C>A	ENSP00000263440.4:n.823-15C>A
ENST00000371108.8:c.817-15C>A	ENSP00000360149.4:n.817-15C>A
ENST00000465969.5:n.391C>A
ENST00000603108.5:c.827-1827C>A	ENSP00000473934.1:n.827-1827C>A
NM_013339.3:c.817-15C>A	NP_037471.2:n.817-15C>A
NM_013339.4:c.817-15C>A MANE Select	NP_037471.2:n.817-15C>A