Canonical Allele Identifier: CA340637541

Gene: ALG6

Linked Data

• dbSNP Id: rs4630153
• gnomAD v4: 1-63415881-C-A
• MyVariant Identifiers: chr1:g.63881552C>A (hg19) ; chr1:g.63415881C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.63415881C>A , CM000663.2:g.63415881C>A	GRCh38
NC_000001.10:g.63881552C>A , CM000663.1:g.63881552C>A	GRCh37
NC_000001.9:g.63654140C>A	NCBI36
NG_008925.2:g.53292C>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000263440.6:c.911C>A MANE Select	ENSP00000263440.5:p.Ser304Tyr
ENST00000603108.6:c.*60C>A	ENSP00000473934.2:n.*60C>A
ENST00000647818.1:c.*217C>A	ENSP00000497667.1:n.*217C>A
ENST00000648964.1:c.*640C>A	ENSP00000497828.1:n.*640C>A
ENST00000649570.1:c.*333C>A	ENSP00000497742.1:n.*333C>A
ENST00000650494.1:c.*268C>A	ENSP00000497170.1:n.*268C>A
ENST00000263440.4:c.917C>A	ENSP00000263440.4:p.Ser306Tyr
ENST00000371108.8:c.911C>A	ENSP00000360149.4:p.Ser304Tyr
ENST00000465969.5:n.500C>A
ENST00000603108.5:c.835C>A	ENSP00000473934.1:p.Leu279Ile
NM_013339.3:c.911C>A	NP_037471.2:p.Ser304Tyr
NM_013339.4:c.911C>A MANE Select	NP_037471.2:p.Ser304Tyr