Canonical Allele Identifier: CA949387498
Gene: BBS10 HGNC NCBI

Linked Data

dbSNP Id: rs1951752441
gnomAD v3: 12-76345745-G-C
gnomAD v4: 12-76345745-G-C
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Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.76345745G>C , CM000674.2:g.76345745G>C GRCh38
NC_000012.11:g.76739525G>C , CM000674.1:g.76739525G>C GRCh37
NC_000012.10:g.75263656G>C NCBI36
NG_016357.1:g.7698C>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000650064.2:c.*68C>G MANE Select ENSP00000497413.1:n.*68C>G
ENST00000393262.3:c.*68C>G ENSP00000376946.3:n.*68C>G
NM_024685.3:c.*68C>G NP_078961.3:n.*68C>G
NM_024685.4:c.*68C>G MANE Select NP_078961.3:n.*68C>G
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