Canonical Allele Identifier: CA340637594

Gene: ALG6

Linked Data

• gnomAD v4: 1-63415908-G-A
• MyVariant Identifiers: chr1:g.63881579G>A (hg19) ; chr1:g.63415908G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.63415908G>A , CM000663.2:g.63415908G>A	GRCh38
NC_000001.10:g.63881579G>A , CM000663.1:g.63881579G>A	GRCh37
NC_000001.9:g.63654167G>A	NCBI36
NG_008925.2:g.53319G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000263440.6:c.938G>A MANE Select	ENSP00000263440.5:p.Cys313Tyr
ENST00000603108.6:c.*87G>A	ENSP00000473934.2:n.*87G>A
ENST00000647818.1:c.*244G>A	ENSP00000497667.1:n.*244G>A
ENST00000648964.1:c.*667G>A	ENSP00000497828.1:n.*667G>A
ENST00000649570.1:c.*360G>A	ENSP00000497742.1:n.*360G>A
ENST00000650494.1:c.*295G>A	ENSP00000497170.1:n.*295G>A
ENST00000263440.4:c.944G>A	ENSP00000263440.4:p.Cys315Tyr
ENST00000371108.8:c.938G>A	ENSP00000360149.4:p.Cys313Tyr
ENST00000465969.5:n.527G>A
ENST00000603108.5:c.*16G>A	ENSP00000473934.1:n.*16G>A
NM_013339.3:c.938G>A	NP_037471.2:p.Cys313Tyr
NM_013339.4:c.938G>A MANE Select	NP_037471.2:p.Cys313Tyr