Canonical Allele Identifier: CA385808388
Gene: BBS10 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.76345922A>C , CM000674.2:g.76345922A>C GRCh38
NC_000012.11:g.76739702A>C , CM000674.1:g.76739702A>C GRCh37
NC_000012.10:g.75263833A>C NCBI36
NG_016357.1:g.7521T>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000650064.2:c.2063T>G MANE Select ENSP00000497413.1:p.Leu688Arg
ENST00000393262.3:c.2063T>G ENSP00000376946.3:p.Leu688Arg
NM_024685.3:c.2063T>G NP_078961.3:p.Leu688Arg
NM_024685.4:c.2063T>G MANE Select NP_078961.3:p.Leu688Arg