Canonical Allele Identifier: CA384575590

Gene: ALG10B

Linked Data

• gnomAD v4: 12-38318352-A-C
• MyVariant Identifiers: chr12:g.38712154A>C (hg19) ; chr12:g.38318352A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.38318352A>C , CM000674.2:g.38318352A>C	GRCh38
NC_000012.11:g.38712154A>C , CM000674.1:g.38712154A>C	GRCh37
NC_000012.10:g.36998421A>C	NCBI36

Transcript Alleles

HGVS	Amino-acid change
ENST00000308742.9:c.263A>C MANE Select	ENSP00000310120.4:p.His88Pro
ENST00000308742.8:c.263A>C	ENSP00000310120.4:p.His88Pro
ENST00000548240.1:c.*3A>C	ENSP00000449210.1:n.*3A>C
ENST00000551464.1:c.263A>C	ENSP00000448819.1:p.His88Pro
ENST00000553138.1:n.1586A>C
NM_001013620.3:c.263A>C	NP_001013642.1:p.His88Pro
NM_001308340.1:c.263A>C	NP_001295269.1:p.His88Pro
XM_005268665.3:c.83A>C	XP_005268722.1:p.His28Pro
XM_006719243.2:c.83A>C	XP_006719306.1:p.His28Pro
XM_005268665.4:c.83A>C	XP_005268722.1:p.His28Pro
NM_001013620.4:c.263A>C MANE Select	NP_001013642.2:p.His88Pro
NM_001308340.2:c.263A>C	NP_001295269.2:p.His88Pro