Canonical Allele Identifier: CA481010845
Gene: BBS10 HGNC NCBI

Linked Data

ClinVar Variation Id: 1656787
ClinVar RCV Id: RCV002183422
dbSNP Id: rs2136089870
MyVariant Identifiers: chr12:g.76739940A>G (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.76346160A>G , CM000674.2:g.76346160A>G GRCh38
NC_000012.11:g.76739940A>G , CM000674.1:g.76739940A>G GRCh37
NC_000012.10:g.75264071A>G NCBI36
NG_016357.1:g.7283T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000650064.2:c.1825T>C MANE Select ENSP00000497413.1:p.Leu609=
ENST00000393262.3:c.1825T>C ENSP00000376946.3:p.Leu609=
NM_024685.3:c.1825T>C NP_078961.3:p.Leu609=
NM_024685.4:c.1825T>C MANE Select NP_078961.3:p.Leu609=