Canonical Allele Identifier: CA340637642

Gene: ALG6

Linked Data

• MyVariant Identifiers: chr1:g.63881602T>A (hg19) ; chr1:g.63415931T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.63415931T>A , CM000663.2:g.63415931T>A	GRCh38
NC_000001.10:g.63881602T>A , CM000663.1:g.63881602T>A	GRCh37
NC_000001.9:g.63654190T>A	NCBI36
NG_008925.2:g.53342T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000263440.6:c.961T>A MANE Select	ENSP00000263440.5:p.Ser321Thr
ENST00000603108.6:c.*110T>A	ENSP00000473934.2:n.*110T>A
ENST00000647818.1:c.*267T>A	ENSP00000497667.1:n.*267T>A
ENST00000648964.1:c.*690T>A	ENSP00000497828.1:n.*690T>A
ENST00000649570.1:c.*383T>A	ENSP00000497742.1:n.*383T>A
ENST00000650494.1:c.*318T>A	ENSP00000497170.1:n.*318T>A
ENST00000263440.4:c.967T>A	ENSP00000263440.4:p.Ser323Thr
ENST00000371108.8:c.961T>A	ENSP00000360149.4:p.Ser321Thr
ENST00000465969.5:n.550T>A
ENST00000603108.5:c.*39T>A	ENSP00000473934.1:n.*39T>A
NM_013339.3:c.961T>A	NP_037471.2:p.Ser321Thr
NM_013339.4:c.961T>A MANE Select	NP_037471.2:p.Ser321Thr