Canonical Allele Identifier: CA2575230719
Gene: BBS10 HGNC NCBI
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.76345757C>T , CM000674.2:g.76345757C>T GRCh38
NC_000012.11:g.76739537C>T , CM000674.1:g.76739537C>T GRCh37
NC_000012.10:g.75263668C>T NCBI36
NG_016357.1:g.7686G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000650064.2:c.*56G>A MANE Select ENSP00000497413.1:n.*56G>A
ENST00000393262.3:c.*56G>A ENSP00000376946.3:n.*56G>A
NM_024685.3:c.*56G>A NP_078961.3:n.*56G>A
NM_024685.4:c.*56G>A MANE Select NP_078961.3:n.*56G>A
Search 100 bp 5'
Search 100 bp 3'