Canonical Allele Identifier: CA340637613

Gene: ALG6

Linked Data

• MyVariant Identifiers: chr1:g.63881587T>G (hg19) ; chr1:g.63415916T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.63415916T>G , CM000663.2:g.63415916T>G	GRCh38
NC_000001.10:g.63881587T>G , CM000663.1:g.63881587T>G	GRCh37
NC_000001.9:g.63654175T>G	NCBI36
NG_008925.2:g.53327T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000263440.6:c.946T>G MANE Select	ENSP00000263440.5:p.Leu316Val
ENST00000603108.6:c.*95T>G	ENSP00000473934.2:n.*95T>G
ENST00000647818.1:c.*252T>G	ENSP00000497667.1:n.*252T>G
ENST00000648964.1:c.*675T>G	ENSP00000497828.1:n.*675T>G
ENST00000649570.1:c.*368T>G	ENSP00000497742.1:n.*368T>G
ENST00000650494.1:c.*303T>G	ENSP00000497170.1:n.*303T>G
ENST00000263440.4:c.952T>G	ENSP00000263440.4:p.Leu318Val
ENST00000371108.8:c.946T>G	ENSP00000360149.4:p.Leu316Val
ENST00000465969.5:n.535T>G
ENST00000603108.5:c.*24T>G	ENSP00000473934.1:n.*24T>G
NM_013339.3:c.946T>G	NP_037471.2:p.Leu316Val
NM_013339.4:c.946T>G MANE Select	NP_037471.2:p.Leu316Val