Canonical Allele Identifier: CA385810180
Gene: BBS10 HGNC NCBI

Linked Data

ClinVar Variation Id: 1399140
ClinVar RCV Id: RCV001915404
dbSNP Id: rs2136089937
gnomAD v4: 12-76346238-T-C
MyVariant Identifiers: chr12:g.76740018T>C (hg19) chr12:g.76346238T>C (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.76346238T>C , CM000674.2:g.76346238T>C GRCh38
NC_000012.11:g.76740018T>C , CM000674.1:g.76740018T>C GRCh37
NC_000012.10:g.75264149T>C NCBI36
NG_016357.1:g.7205A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000650064.2:c.1747A>G MANE Select ENSP00000497413.1:p.Met583Val
ENST00000393262.3:c.1747A>G ENSP00000376946.3:p.Met583Val
NM_024685.3:c.1747A>G NP_078961.3:p.Met583Val
NM_024685.4:c.1747A>G MANE Select NP_078961.3:p.Met583Val
Search 100 bp 5'
Search 100 bp 3'