Canonical Allele Identifier: CA6694132
Gene: BBS10 HGNC NCBI

Linked Data

dbSNP Id: rs773678745

Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.76346346C>T , CM000674.2:g.76346346C>T GRCh38
NC_000012.11:g.76740126C>T , CM000674.1:g.76740126C>T GRCh37
NC_000012.10:g.75264257C>T NCBI36
NG_016357.1:g.7097G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000650064.2:c.1639G>A MANE Select ENSP00000497413.1:p.Ala547Thr
ENST00000393262.3:c.1639G>A ENSP00000376946.3:p.Ala547Thr
NM_024685.3:c.1639G>A NP_078961.3:p.Ala547Thr
NM_024685.4:c.1639G>A MANE Select NP_078961.3:p.Ala547Thr