Canonical Allele Identifier: CA340636355

Gene: ALG6

Linked Data

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

Genomic Alleles

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

Transcript Alleles

HGVS	Amino-acid Change
ENST00000263440.6:c.824T>A MANE Select	ENSP00000263440.5:p.Val275Glu
ENST00000603108.6:c.824T>A	ENSP00000473934.2:p.Val275Glu
ENST00000647818.1:c.*130T>A	ENSP00000497667.1:n.*130T>A
ENST00000648964.1:c.*553T>A	ENSP00000497828.1:n.*553T>A
ENST00000649570.1:c.*249-3T>A	ENSP00000497742.1:n.*249-3T>A
ENST00000650494.1:c.*126T>A	ENSP00000497170.1:n.*126T>A
ENST00000263440.4:c.830T>A	ENSP00000263440.4:p.Val277Glu
ENST00000371108.8:c.824T>A	ENSP00000360149.4:p.Val275Glu
ENST00000465969.5:n.413T>A
ENST00000603108.5:c.827-1805T>A	ENSP00000473934.1:n.827-1805T>A
NM_013339.3:c.824T>A	NP_037471.2:p.Val275Glu
NM_013339.4:c.824T>A MANE Select	NP_037471.2:p.Val275Glu