Canonical Allele Identifier: CA340636359

Gene: ALG6

Linked Data

• MyVariant Identifiers: chr1:g.63879739T>G (hg19) ; chr1:g.63414068T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.63414068T>G , CM000663.2:g.63414068T>G	GRCh38
NC_000001.10:g.63879739T>G , CM000663.1:g.63879739T>G	GRCh37
NC_000001.9:g.63652327T>G	NCBI36
NG_008925.2:g.51479T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000263440.6:c.824T>G MANE Select	ENSP00000263440.5:p.Val275Gly
ENST00000603108.6:c.824T>G	ENSP00000473934.2:p.Val275Gly
ENST00000647818.1:c.*130T>G	ENSP00000497667.1:n.*130T>G
ENST00000648964.1:c.*553T>G	ENSP00000497828.1:n.*553T>G
ENST00000649570.1:c.*249-3T>G	ENSP00000497742.1:n.*249-3T>G
ENST00000650494.1:c.*126T>G	ENSP00000497170.1:n.*126T>G
ENST00000263440.4:c.830T>G	ENSP00000263440.4:p.Val277Gly
ENST00000371108.8:c.824T>G	ENSP00000360149.4:p.Val275Gly
ENST00000465969.5:n.413T>G
ENST00000603108.5:c.827-1805T>G	ENSP00000473934.1:n.827-1805T>G
NM_013339.3:c.824T>G	NP_037471.2:p.Val275Gly
NM_013339.4:c.824T>G MANE Select	NP_037471.2:p.Val275Gly