Canonical Allele Identifier: CA10727632

Gene: ALG6

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.63428488T>G , CM000663.2:g.63428488T>G	GRCh38
NC_000001.10:g.63894159T>G , CM000663.1:g.63894159T>G	GRCh37
NC_000001.9:g.63666747T>G	NCBI36
NG_008925.2:g.65899T>G

Transcript Alleles

HGVS	Amino-acid Change
NM_013339.4:c.1059-245T>G MANE Select	NP_037471.2:n.1059-245T>G
ENST00000263440.6:c.1059-245T>G MANE Select	ENSP00000263440.5:n.1059-245T>G
NM_013339.3:c.1059-245T>G	NP_037471.2:n.1059-245T>G
ENST00000263440.4:c.1065-245T>G	ENSP00000263440.4:n.1065-245T>G
ENST00000371108.8:c.1059-245T>G	ENSP00000360149.4:n.1059-245T>G
ENST00000462390.1:n.48-245T>G
ENST00000465969.5:n.648-245T>G
ENST00000494765.1:n.251T>G
ENST00000494765.2:n.36T>G
ENST00000603108.5:c.*137-245T>G	ENSP00000473934.1:n.*137-245T>G
ENST00000603108.6:c.*208-245T>G	ENSP00000473934.2:n.*208-245T>G
ENST00000647818.1:c.*365-245T>G	ENSP00000497667.1:n.*365-245T>G
ENST00000648964.1:c.*788-245T>G	ENSP00000497828.1:n.*788-245T>G
ENST00000649570.1:c.*481-245T>G	ENSP00000497742.1:n.*481-245T>G
ENST00000650494.1:c.*416-245T>G	ENSP00000497170.1:n.*416-245T>G