Canonical Allele Identifier: CA385808401
Gene: BBS10 HGNC NCBI

Linked Data

ClinVar Variation Id: 1967582
ClinVar RCV Id: RCV002754957
MyVariant Identifiers: chr12:g.76739708T>C (hg19) chr12:g.76345928T>C (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.76345928T>C , CM000674.2:g.76345928T>C GRCh38
NC_000012.11:g.76739708T>C , CM000674.1:g.76739708T>C GRCh37
NC_000012.10:g.75263839T>C NCBI36
NG_016357.1:g.7515A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000650064.2:c.2057A>G MANE Select ENSP00000497413.1:p.Gln686Arg
ENST00000393262.3:c.2057A>G ENSP00000376946.3:p.Gln686Arg
NM_024685.3:c.2057A>G NP_078961.3:p.Gln686Arg
NM_024685.4:c.2057A>G MANE Select NP_078961.3:p.Gln686Arg
Search 100 bp 5'
Search 100 bp 3'