Canonical Allele Identifier: CA888368

Gene: ALG6

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.63428725G>A , CM000663.2:g.63428725G>A	GRCh38
NC_000001.10:g.63894396G>A , CM000663.1:g.63894396G>A	GRCh37
NC_000001.9:g.63666984G>A	NCBI36
NG_008925.2:g.66136G>A

Transcript Alleles

HGVS	Amino-acid Change
NM_013339.4:c.1059-8G>A MANE Select	NP_037471.2:n.1059-8G>A
ENST00000263440.6:c.1059-8G>A MANE Select	ENSP00000263440.5:n.1059-8G>A
NM_013339.3:c.1059-8G>A	NP_037471.2:n.1059-8G>A
ENST00000263440.4:c.1065-8G>A	ENSP00000263440.4:n.1065-8G>A
ENST00000371108.8:c.1059-8G>A	ENSP00000360149.4:n.1059-8G>A
ENST00000462390.1:n.48-8G>A
ENST00000465969.5:n.648-8G>A
ENST00000494765.1:n.488G>A
ENST00000494765.2:n.273G>A
ENST00000603108.5:c.*137-8G>A	ENSP00000473934.1:n.*137-8G>A
ENST00000603108.6:c.*208-8G>A	ENSP00000473934.2:n.*208-8G>A
ENST00000647818.1:c.*365-8G>A	ENSP00000497667.1:n.*365-8G>A
ENST00000648964.1:c.*788-8G>A	ENSP00000497828.1:n.*788-8G>A
ENST00000649570.1:c.*481-8G>A	ENSP00000497742.1:n.*481-8G>A
ENST00000650494.1:c.*416-8G>A	ENSP00000497170.1:n.*416-8G>A