Canonical Allele Identifier: CA888348

Gene: ALG6

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.63419413A>G , CM000663.2:g.63419413A>G	GRCh38
NC_000001.10:g.63885084A>G , CM000663.1:g.63885084A>G	GRCh37
NC_000001.9:g.63657672A>G	NCBI36
NG_008925.2:g.56824A>G

Transcript Alleles

HGVS	Amino-acid Change
NM_013339.4:c.1031A>G MANE Select	NP_037471.2:p.His344Arg
ENST00000263440.6:c.1031A>G MANE Select	ENSP00000263440.5:p.His344Arg
NM_013339.3:c.1031A>G	NP_037471.2:p.His344Arg
ENST00000263440.4:c.1037A>G	ENSP00000263440.4:p.His346Arg
ENST00000371108.8:c.1031A>G	ENSP00000360149.4:p.His344Arg
ENST00000462390.1:n.20A>G
ENST00000465969.5:n.620A>G
ENST00000603108.5:c.*109A>G	ENSP00000473934.1:n.*109A>G
ENST00000603108.6:c.*180A>G	ENSP00000473934.2:n.*180A>G
ENST00000647818.1:c.*337A>G	ENSP00000497667.1:n.*337A>G
ENST00000648964.1:c.*760A>G	ENSP00000497828.1:n.*760A>G
ENST00000649570.1:c.*453A>G	ENSP00000497742.1:n.*453A>G
ENST00000650494.1:c.*388A>G	ENSP00000497170.1:n.*388A>G