Canonical Allele Identifier: CA340642347

Gene: ALG6

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.63437016G>A , CM000663.2:g.63437016G>A	GRCh38
NC_000001.10:g.63902687G>A , CM000663.1:g.63902687G>A	GRCh37
NC_000001.9:g.63675275G>A	NCBI36
NG_008925.2:g.74427G>A

Transcript Alleles

HGVS	Amino-acid Change
NM_013339.4:c.1520G>A MANE Select	NP_037471.2:p.Ser507Asn
ENST00000263440.6:c.1520G>A MANE Select	ENSP00000263440.5:p.Ser507Asn
NM_013339.3:c.1520G>A	NP_037471.2:p.Ser507Asn
ENST00000263440.4:c.1526G>A	ENSP00000263440.4:p.Ser509Asn
ENST00000371108.8:c.1520G>A	ENSP00000360149.4:p.Ser507Asn
ENST00000494765.1:n.1083G>A
ENST00000494765.2:n.868G>A
ENST00000603108.5:c.*598G>A	ENSP00000473934.1:n.*598G>A
ENST00000603108.6:c.*669G>A	ENSP00000473934.2:n.*669G>A
ENST00000647818.1:c.*826G>A	ENSP00000497667.1:n.*826G>A
ENST00000648964.1:c.*1249G>A	ENSP00000497828.1:n.*1249G>A
ENST00000649570.1:c.*942G>A	ENSP00000497742.1:n.*942G>A