Canonical Allele Identifier: CA2575230725
Gene: BBS10 HGNC NCBI
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Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.76345808T>G , CM000674.2:g.76345808T>G GRCh38
NC_000012.11:g.76739588T>G , CM000674.1:g.76739588T>G GRCh37
NC_000012.10:g.75263719T>G NCBI36
NG_016357.1:g.7635A>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000650064.2:c.*5A>C MANE Select ENSP00000497413.1:n.*5A>C
ENST00000393262.3:c.*5A>C ENSP00000376946.3:n.*5A>C
NM_024685.3:c.*5A>C NP_078961.3:n.*5A>C
NM_024685.4:c.*5A>C MANE Select NP_078961.3:n.*5A>C
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