Canonical Allele Identifier: CA418202729

Gene: ALG6

Linked Data

• MyVariant Identifiers: chr1:g.63881553T>A (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.63415882T>A , CM000663.2:g.63415882T>A	GRCh38
NC_000001.10:g.63881553T>A , CM000663.1:g.63881553T>A	GRCh37
NC_000001.9:g.63654141T>A	NCBI36
NG_008925.2:g.53293T>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000263440.6:c.912T>A MANE Select	ENSP00000263440.5:p.Ser304=
ENST00000603108.6:c.*61T>A	ENSP00000473934.2:n.*61T>A
ENST00000647818.1:c.*218T>A	ENSP00000497667.1:n.*218T>A
ENST00000648964.1:c.*641T>A	ENSP00000497828.1:n.*641T>A
ENST00000649570.1:c.*334T>A	ENSP00000497742.1:n.*334T>A
ENST00000650494.1:c.*269T>A	ENSP00000497170.1:n.*269T>A
ENST00000263440.4:c.918T>A	ENSP00000263440.4:p.Ser306=
ENST00000371108.8:c.912T>A	ENSP00000360149.4:p.Ser304=
ENST00000465969.5:n.501T>A
ENST00000603108.5:c.836T>A	ENSP00000473934.1:p.Leu279Gln
NM_013339.3:c.912T>A	NP_037471.2:p.Ser304=
NM_013339.4:c.912T>A MANE Select	NP_037471.2:p.Ser304=