Canonical Allele Identifier: CA340637689
Gene: ALG6 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.63415951T>A , CM000663.2:g.63415951T>A GRCh38
NC_000001.10:g.63881622T>A , CM000663.1:g.63881622T>A GRCh37
NC_000001.9:g.63654210T>A NCBI36
NG_008925.2:g.53362T>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000263440.6:c.981T>A MANE Select ENSP00000263440.5:p.Phe327Leu
ENST00000603108.6:c.*130T>A ENSP00000473934.2:n.*130T>A
ENST00000647818.1:c.*287T>A ENSP00000497667.1:n.*287T>A
ENST00000648964.1:c.*710T>A ENSP00000497828.1:n.*710T>A
ENST00000649570.1:c.*403T>A ENSP00000497742.1:n.*403T>A
ENST00000650494.1:c.*338T>A ENSP00000497170.1:n.*338T>A
ENST00000263440.4:c.987T>A ENSP00000263440.4:p.Phe329Leu
ENST00000371108.8:c.981T>A ENSP00000360149.4:p.Phe327Leu
ENST00000465969.5:n.570T>A
ENST00000603108.5:c.*59T>A ENSP00000473934.1:n.*59T>A
NM_013339.3:c.981T>A NP_037471.2:p.Phe327Leu
NM_013339.4:c.981T>A MANE Select NP_037471.2:p.Phe327Leu