Canonical Allele Identifier: CA260178
Gene: BBS10 HGNC NCBI

Identifiers and link-outs to other resources

ClinVar Variation Id: 35751
dbSNP Id: rs141521925

Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.76346249T>C , CM000674.2:g.76346249T>C GRCh38
NC_000012.11:g.76740029T>C , CM000674.1:g.76740029T>C GRCh37
NC_000012.10:g.75264160T>C NCBI36
NG_016357.1:g.7194A>G

Transcript Alleles

HGVS Amino-acid change
NM_024685.3:c.1736A>G VV NP_078961.3:p.Lys579Arg
NM_024685.4:c.1736A>G VV
ENST00000393262.3:c.1736A>G ENSP00000376946.3:p.Lys579Arg