Canonical Allele Identifier: CA340637565

Gene: ALG6

Linked Data

• MyVariant Identifiers: chr1:g.63881564G>C (hg19) ; chr1:g.63415893G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.63415893G>C , CM000663.2:g.63415893G>C	GRCh38
NC_000001.10:g.63881564G>C , CM000663.1:g.63881564G>C	GRCh37
NC_000001.9:g.63654152G>C	NCBI36
NG_008925.2:g.53304G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000263440.6:c.923G>C MANE Select	ENSP00000263440.5:p.Ser308Thr
ENST00000603108.6:c.*72G>C	ENSP00000473934.2:n.*72G>C
ENST00000647818.1:c.*229G>C	ENSP00000497667.1:n.*229G>C
ENST00000648964.1:c.*652G>C	ENSP00000497828.1:n.*652G>C
ENST00000649570.1:c.*345G>C	ENSP00000497742.1:n.*345G>C
ENST00000650494.1:c.*280G>C	ENSP00000497170.1:n.*280G>C
ENST00000263440.4:c.929G>C	ENSP00000263440.4:p.Ser310Thr
ENST00000371108.8:c.923G>C	ENSP00000360149.4:p.Ser308Thr
ENST00000465969.5:n.512G>C
ENST00000603108.5:c.*1G>C	ENSP00000473934.1:n.*1G>C
NM_013339.3:c.923G>C	NP_037471.2:p.Ser308Thr
NM_013339.4:c.923G>C MANE Select	NP_037471.2:p.Ser308Thr