Canonical Allele Identifier: CA385810470
Gene: BBS10 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.76346286T>C , CM000674.2:g.76346286T>C GRCh38
NC_000012.11:g.76740066T>C , CM000674.1:g.76740066T>C GRCh37
NC_000012.10:g.75264197T>C NCBI36
NG_016357.1:g.7157A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000650064.2:c.1699A>G MANE Select ENSP00000497413.1:p.Ile567Val
ENST00000393262.3:c.1699A>G ENSP00000376946.3:p.Ile567Val
NM_024685.3:c.1699A>G NP_078961.3:p.Ile567Val
NM_024685.4:c.1699A>G MANE Select NP_078961.3:p.Ile567Val