Canonical Allele Identifier: CA1171486585

Gene: ALG6

Linked Data

• dbSNP Id: rs1274901026

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.63415782T>G , CM000663.2:g.63415782T>G	GRCh38
NC_000001.10:g.63881453T>G , CM000663.1:g.63881453T>G	GRCh37
NC_000001.9:g.63654041T>G	NCBI36
NG_008925.2:g.53193T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000263440.6:c.903-91T>G MANE Select	ENSP00000263440.5:n.903-91T>G
ENST00000603108.6:c.903-36T>G	ENSP00000473934.2:n.903-36T>G
ENST00000647818.1:c.*209-91T>G	ENSP00000497667.1:n.*209-91T>G
ENST00000648964.1:c.*632-91T>G	ENSP00000497828.1:n.*632-91T>G
ENST00000649570.1:c.*325-91T>G	ENSP00000497742.1:n.*325-91T>G
ENST00000650494.1:c.*205-36T>G	ENSP00000497170.1:n.*205-36T>G
ENST00000263440.4:c.909-91T>G	ENSP00000263440.4:n.909-91T>G
ENST00000371108.8:c.903-91T>G	ENSP00000360149.4:n.903-91T>G
ENST00000465969.5:n.492-91T>G
ENST00000603108.5:c.827-91T>G	ENSP00000473934.1:n.827-91T>G
NM_013339.3:c.903-91T>G	NP_037471.2:n.903-91T>G
NM_013339.4:c.903-91T>G MANE Select	NP_037471.2:n.903-91T>G