Canonical Allele Identifier: CA2047353007
Gene: BBS10 HGNC NCBI

Linked Data

dbSNP Id: rs1951752424
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Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.76345743C>G , CM000674.2:g.76345743C>G GRCh38
NC_000012.11:g.76739523C>G , CM000674.1:g.76739523C>G GRCh37
NC_000012.10:g.75263654C>G NCBI36
NG_016357.1:g.7700G>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000650064.2:c.*70G>C MANE Select ENSP00000497413.1:n.*70G>C
ENST00000393262.3:c.*70G>C ENSP00000376946.3:n.*70G>C
NM_024685.3:c.*70G>C NP_078961.3:n.*70G>C
NM_024685.4:c.*70G>C MANE Select NP_078961.3:n.*70G>C
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