Canonical Allele Identifier: CA481011251
Gene: BBS10 HGNC NCBI

Linked Data

ClinVar Variation Id: 1657791
ClinVar RCV Id: RCV002175750
dbSNP Id: rs2136090019
MyVariant Identifiers: chr12:g.76740109T>G (hg19)
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Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.76346329T>G , CM000674.2:g.76346329T>G GRCh38
NC_000012.11:g.76740109T>G , CM000674.1:g.76740109T>G GRCh37
NC_000012.10:g.75264240T>G NCBI36
NG_016357.1:g.7114A>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000650064.2:c.1656A>C MANE Select ENSP00000497413.1:p.Gly552=
ENST00000393262.3:c.1656A>C ENSP00000376946.3:p.Gly552=
NM_024685.3:c.1656A>C NP_078961.3:p.Gly552=
NM_024685.4:c.1656A>C MANE Select NP_078961.3:p.Gly552=
Search 100 bp 5'
Search 100 bp 3'