Canonical Allele Identifier: CA1139662785
Gene: BBS10 HGNC NCBI

Linked Data

ClinVar Variation Id: 882226
ClinVar RCV Id: RCV001111718
dbSNP Id: rs1951752530
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Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.76345765C>G , CM000674.2:g.76345765C>G GRCh38
NC_000012.11:g.76739545C>G , CM000674.1:g.76739545C>G GRCh37
NC_000012.10:g.75263676C>G NCBI36
NG_016357.1:g.7678G>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000650064.2:c.*48G>C MANE Select ENSP00000497413.1:n.*48G>C
ENST00000393262.3:c.*48G>C ENSP00000376946.3:n.*48G>C
NM_024685.3:c.*48G>C NP_078961.3:n.*48G>C
NM_024685.4:c.*48G>C MANE Select NP_078961.3:n.*48G>C
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