Canonical Allele Identifier: CA340637706

Gene: ALG6

Linked Data

• MyVariant Identifiers: chr1:g.63881630T>G (hg19) ; chr1:g.63415959T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.63415959T>G , CM000663.2:g.63415959T>G	GRCh38
NC_000001.10:g.63881630T>G , CM000663.1:g.63881630T>G	GRCh37
NC_000001.9:g.63654218T>G	NCBI36
NG_008925.2:g.53370T>G

Transcript Alleles

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