Canonical Allele Identifier: CA1171486731
Gene: ALG6 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.63415961A= , CM000663.2:g.63415961A= GRCh38
NC_000001.10:g.63881632A= , CM000663.1:g.63881632A= GRCh37
NC_000001.9:g.63654220A= NCBI36
NG_008925.2:g.53372A=

Transcript Alleles

HGVS Amino-acid Change
ENST00000263440.6:c.987+4A= MANE Select ENSP00000263440.5:n.987+4A=
ENST00000603108.6:c.*136+4A= ENSP00000473934.2:n.*136+4A=
ENST00000647818.1:c.*293+4A= ENSP00000497667.1:n.*293+4A=
ENST00000648964.1:c.*716+4A= ENSP00000497828.1:n.*716+4A=
ENST00000649570.1:c.*409+4A= ENSP00000497742.1:n.*409+4A=
ENST00000650494.1:c.*344+4A= ENSP00000497170.1:n.*344+4A=
ENST00000263440.4:c.993+4A= ENSP00000263440.4:n.993+4A=
ENST00000371108.8:c.987+4A= ENSP00000360149.4:n.987+4A=
ENST00000465969.5:n.576+4A=
ENST00000603108.5:c.*65+4A= ENSP00000473934.1:n.*65+4A=
NM_013339.3:c.987+4A= NP_037471.2:n.987+4A=
NM_013339.4:c.987+4A= MANE Select NP_037471.2:n.987+4A=