Canonical Allele Identifier: CA340637548

Gene: ALG6

Linked Data

• ClinVar Variation Id: 2305536
• ClinVar RCV Id: RCV002874623
• MyVariant Identifiers: chr1:g.63881557T>A (hg19) ; chr1:g.63415886T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.63415886T>A , CM000663.2:g.63415886T>A	GRCh38
NC_000001.10:g.63881557T>A , CM000663.1:g.63881557T>A	GRCh37
NC_000001.9:g.63654145T>A	NCBI36
NG_008925.2:g.53297T>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000263440.6:c.916T>A MANE Select	ENSP00000263440.5:p.Phe306Ile
ENST00000603108.6:c.*65T>A	ENSP00000473934.2:n.*65T>A
ENST00000647818.1:c.*222T>A	ENSP00000497667.1:n.*222T>A
ENST00000648964.1:c.*645T>A	ENSP00000497828.1:n.*645T>A
ENST00000649570.1:c.*338T>A	ENSP00000497742.1:n.*338T>A
ENST00000650494.1:c.*273T>A	ENSP00000497170.1:n.*273T>A
ENST00000263440.4:c.922T>A	ENSP00000263440.4:p.Phe308Ile
ENST00000371108.8:c.916T>A	ENSP00000360149.4:p.Phe306Ile
ENST00000465969.5:n.505T>A
ENST00000603108.5:c.840T>A	ENSP00000473934.1:p.Arg280=
NM_013339.3:c.916T>A	NP_037471.2:p.Phe306Ile
NM_013339.4:c.916T>A MANE Select	NP_037471.2:p.Phe306Ile