Canonical Allele Identifier: CA1171485568

Gene: ALG6

Linked Data

• dbSNP Id: rs1644530153

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.63414042C>T , CM000663.2:g.63414042C>T	GRCh38
NC_000001.10:g.63879713C>T , CM000663.1:g.63879713C>T	GRCh37
NC_000001.9:g.63652301C>T	NCBI36
NG_008925.2:g.51453C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000263440.6:c.817-19C>T MANE Select	ENSP00000263440.5:n.817-19C>T
ENST00000603108.6:c.817-19C>T	ENSP00000473934.2:n.817-19C>T
ENST00000647818.1:c.*123-19C>T	ENSP00000497667.1:n.*123-19C>T
ENST00000648964.1:c.*546-19C>T	ENSP00000497828.1:n.*546-19C>T
ENST00000649570.1:c.*249-29C>T	ENSP00000497742.1:n.*249-29C>T
ENST00000650494.1:c.*119-19C>T	ENSP00000497170.1:n.*119-19C>T
ENST00000263440.4:c.823-19C>T	ENSP00000263440.4:n.823-19C>T
ENST00000371108.8:c.817-19C>T	ENSP00000360149.4:n.817-19C>T
ENST00000465969.5:n.387C>T
ENST00000603108.5:c.827-1831C>T	ENSP00000473934.1:n.827-1831C>T
NM_013339.3:c.817-19C>T	NP_037471.2:n.817-19C>T
NM_013339.4:c.817-19C>T MANE Select	NP_037471.2:n.817-19C>T