Canonical Allele Identifier: CA340637535

Gene: ALG6

Linked Data

• MyVariant Identifiers: chr1:g.63881549G>C (hg19) ; chr1:g.63415878G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.63415878G>C , CM000663.2:g.63415878G>C	GRCh38
NC_000001.10:g.63881549G>C , CM000663.1:g.63881549G>C	GRCh37
NC_000001.9:g.63654137G>C	NCBI36
NG_008925.2:g.53289G>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000263440.6:c.908G>C MANE Select	ENSP00000263440.5:p.Cys303Ser
ENST00000603108.6:c.*57G>C	ENSP00000473934.2:n.*57G>C
ENST00000647818.1:c.*214G>C	ENSP00000497667.1:n.*214G>C
ENST00000648964.1:c.*637G>C	ENSP00000497828.1:n.*637G>C
ENST00000649570.1:c.*330G>C	ENSP00000497742.1:n.*330G>C
ENST00000650494.1:c.*265G>C	ENSP00000497170.1:n.*265G>C
ENST00000263440.4:c.914G>C	ENSP00000263440.4:p.Cys305Ser
ENST00000371108.8:c.908G>C	ENSP00000360149.4:p.Cys303Ser
ENST00000465969.5:n.497G>C
ENST00000603108.5:c.832G>C	ENSP00000473934.1:p.Val278Leu
NM_013339.3:c.908G>C	NP_037471.2:p.Cys303Ser
NM_013339.4:c.908G>C MANE Select	NP_037471.2:p.Cys303Ser