Canonical Allele Identifier: CA385808338
Gene: BBS10 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.76345898G>T , CM000674.2:g.76345898G>T GRCh38
NC_000012.11:g.76739678G>T , CM000674.1:g.76739678G>T GRCh37
NC_000012.10:g.75263809G>T NCBI36
NG_016357.1:g.7545C>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000650064.2:c.2087C>A MANE Select ENSP00000497413.1:p.Thr696Lys
ENST00000393262.3:c.2087C>A ENSP00000376946.3:p.Thr696Lys
NM_024685.3:c.2087C>A NP_078961.3:p.Thr696Lys
NM_024685.4:c.2087C>A MANE Select NP_078961.3:p.Thr696Lys