Canonical Allele Identifier: CA2619945550
Gene: BBS10 HGNC NCBI

Linked Data

gnomAD v4: 12-76345744-A-C
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.76345744A>C , CM000674.2:g.76345744A>C GRCh38
NC_000012.11:g.76739524A>C , CM000674.1:g.76739524A>C GRCh37
NC_000012.10:g.75263655A>C NCBI36
NG_016357.1:g.7699T>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000650064.2:c.*69T>G MANE Select ENSP00000497413.1:n.*69T>G
ENST00000393262.3:c.*69T>G ENSP00000376946.3:n.*69T>G
NM_024685.3:c.*69T>G NP_078961.3:n.*69T>G
NM_024685.4:c.*69T>G MANE Select NP_078961.3:n.*69T>G
Search 100 bp 5'
Search 100 bp 3'