Canonical Allele Identifier: CA418202774

Gene: ALG6

Linked Data

• ClinVar Variation Id: 2040535
• ClinVar RCV Id: RCV002886468
• MyVariant Identifiers: chr1:g.63881560T>C (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.63415889T>C , CM000663.2:g.63415889T>C	GRCh38
NC_000001.10:g.63881560T>C , CM000663.1:g.63881560T>C	GRCh37
NC_000001.9:g.63654148T>C	NCBI36
NG_008925.2:g.53300T>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000263440.6:c.919T>C MANE Select	ENSP00000263440.5:p.Leu307=
ENST00000603108.6:c.*68T>C	ENSP00000473934.2:n.*68T>C
ENST00000647818.1:c.*225T>C	ENSP00000497667.1:n.*225T>C
ENST00000648964.1:c.*648T>C	ENSP00000497828.1:n.*648T>C
ENST00000649570.1:c.*341T>C	ENSP00000497742.1:n.*341T>C
ENST00000650494.1:c.*276T>C	ENSP00000497170.1:n.*276T>C
ENST00000263440.4:c.925T>C	ENSP00000263440.4:p.Leu309=
ENST00000371108.8:c.919T>C	ENSP00000360149.4:p.Leu307=
ENST00000465969.5:n.508T>C
ENST00000603108.5:c.843T>C	ENSP00000473934.1:p.Phe281=
NM_013339.3:c.919T>C	NP_037471.2:p.Leu307=
NM_013339.4:c.919T>C MANE Select	NP_037471.2:p.Leu307=