Canonical Allele Identifier: CA384575564

Gene: ALG10B

Linked Data

• dbSNP Id: rs6582584
• MyVariant Identifiers: chr12:g.38712142C>T (hg19) ; chr12:g.38318340C>T (hg38)

Genomic Alleles

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

Transcript Alleles

HGVS	Amino-acid change
ENST00000308742.9:c.251C>T MANE Select	ENSP00000310120.4:p.Ala84Val
ENST00000308742.8:c.251C>T	ENSP00000310120.4:p.Ala84Val
ENST00000548240.1:c.225C>T	ENSP00000449210.1:p.Cys75=
ENST00000551464.1:c.251C>T	ENSP00000448819.1:p.Ala84Val
ENST00000553138.1:n.1574C>T
XM_005268665.3:c.71C>T	XP_005268722.1:p.Ala24Val
XM_006719243.2:c.71C>T	XP_006719306.1:p.Ala24Val
XM_005268665.4:c.71C>T	XP_005268722.1:p.Ala24Val
NM_001013620.4:c.251C>T MANE Select	NP_001013642.2:p.Ala84Val
NM_001308340.2:c.251C>T	NP_001295269.2:p.Ala84Val