Canonical Allele Identifier: CA418202810

Gene: ALG6

Linked Data

• ClinVar Variation Id: 1538253
• ClinVar RCV Id: RCV002092884
• dbSNP Id: rs2100425098
• MyVariant Identifiers: chr1:g.63881568G>C (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.63415897G>C , CM000663.2:g.63415897G>C	GRCh38
NC_000001.10:g.63881568G>C , CM000663.1:g.63881568G>C	GRCh37
NC_000001.9:g.63654156G>C	NCBI36
NG_008925.2:g.53308G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000263440.6:c.927G>C MANE Select	ENSP00000263440.5:p.Leu309=
ENST00000603108.6:c.*76G>C	ENSP00000473934.2:n.*76G>C
ENST00000647818.1:c.*233G>C	ENSP00000497667.1:n.*233G>C
ENST00000648964.1:c.*656G>C	ENSP00000497828.1:n.*656G>C
ENST00000649570.1:c.*349G>C	ENSP00000497742.1:n.*349G>C
ENST00000650494.1:c.*284G>C	ENSP00000497170.1:n.*284G>C
ENST00000263440.4:c.933G>C	ENSP00000263440.4:p.Leu311=
ENST00000371108.8:c.927G>C	ENSP00000360149.4:p.Leu309=
ENST00000465969.5:n.516G>C
ENST00000603108.5:c.*5G>C	ENSP00000473934.1:n.*5G>C
NM_013339.3:c.927G>C	NP_037471.2:p.Leu309=
NM_013339.4:c.927G>C MANE Select	NP_037471.2:p.Leu309=