Canonical Allele Identifier: CA385810696
Gene: BBS10 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.76346343A>G , CM000674.2:g.76346343A>G GRCh38
NC_000012.11:g.76740123A>G , CM000674.1:g.76740123A>G GRCh37
NC_000012.10:g.75264254A>G NCBI36
NG_016357.1:g.7100T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000650064.2:c.1642T>C MANE Select ENSP00000497413.1:p.Tyr548His
ENST00000393262.3:c.1642T>C ENSP00000376946.3:p.Tyr548His
NM_024685.3:c.1642T>C NP_078961.3:p.Tyr548His
NM_024685.4:c.1642T>C MANE Select NP_078961.3:p.Tyr548His