Canonical Allele Identifier: CA2619945548
Gene: BBS10 HGNC NCBI

Linked Data

gnomAD v4: 12-76345742-C-T
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.76345742C>T , CM000674.2:g.76345742C>T GRCh38
NC_000012.11:g.76739522C>T , CM000674.1:g.76739522C>T GRCh37
NC_000012.10:g.75263653C>T NCBI36
NG_016357.1:g.7701G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000650064.2:c.*71G>A MANE Select ENSP00000497413.1:n.*71G>A
ENST00000393262.3:c.*71G>A ENSP00000376946.3:n.*71G>A
NM_024685.3:c.*71G>A NP_078961.3:n.*71G>A
NM_024685.4:c.*71G>A MANE Select NP_078961.3:n.*71G>A
Search 100 bp 5'
Search 100 bp 3'