Canonical Allele Identifier: CA340637536

Gene: ALG6

Linked Data

• MyVariant Identifiers: chr1:g.63881550T>A (hg19) ; chr1:g.63415879T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.63415879T>A , CM000663.2:g.63415879T>A	GRCh38
NC_000001.10:g.63881550T>A , CM000663.1:g.63881550T>A	GRCh37
NC_000001.9:g.63654138T>A	NCBI36
NG_008925.2:g.53290T>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000263440.6:c.909T>A MANE Select	ENSP00000263440.5:p.Cys303Ter
ENST00000603108.6:c.*58T>A	ENSP00000473934.2:n.*58T>A
ENST00000647818.1:c.*215T>A	ENSP00000497667.1:n.*215T>A
ENST00000648964.1:c.*638T>A	ENSP00000497828.1:n.*638T>A
ENST00000649570.1:c.*331T>A	ENSP00000497742.1:n.*331T>A
ENST00000650494.1:c.*266T>A	ENSP00000497170.1:n.*266T>A
ENST00000263440.4:c.915T>A	ENSP00000263440.4:p.Cys305Ter
ENST00000371108.8:c.909T>A	ENSP00000360149.4:p.Cys303Ter
ENST00000465969.5:n.498T>A
ENST00000603108.5:c.833T>A	ENSP00000473934.1:p.Val278Asp
NM_013339.3:c.909T>A	NP_037471.2:p.Cys303Ter
NM_013339.4:c.909T>A MANE Select	NP_037471.2:p.Cys303Ter