Canonical Allele Identifier: CA384575563

Gene: ALG10B

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.38318340C>A , CM000674.2:g.38318340C>A	GRCh38
NC_000012.11:g.38712142C>A , CM000674.1:g.38712142C>A	GRCh37
NC_000012.10:g.36998409C>A	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000308742.9:c.251C>A MANE Select	ENSP00000310120.4:p.Ala84Glu
ENST00000308742.8:c.251C>A	ENSP00000310120.4:p.Ala84Glu
ENST00000548240.1:c.225C>A	ENSP00000449210.1:p.Cys75Ter
ENST00000551464.1:c.251C>A	ENSP00000448819.1:p.Ala84Glu
ENST00000553138.1:n.1574C>A
XM_005268665.3:c.71C>A	XP_005268722.1:p.Ala24Glu
XM_006719243.2:c.71C>A	XP_006719306.1:p.Ala24Glu
XM_005268665.4:c.71C>A	XP_005268722.1:p.Ala24Glu
NM_001013620.4:c.251C>A MANE Select	NP_001013642.2:p.Ala84Glu
NM_001308340.2:c.251C>A	NP_001295269.2:p.Ala84Glu