Canonical Allele Identifier: CA6694316

Gene: BBS10

Linked Data

• ClinVar Variation Id: 438154
• ClinVar RCV Id: RCV000504949 ; RCV001324945 ; RCV002490846
• dbSNP Id: rs756632517
• ExAC: 12:76741175 T / C
• gnomAD v2: 12-76741175-T-C
• gnomAD v4: 12-76347395-T-C
• MyVariant Identifiers: chr12:g.76741175T>C (hg19) ; chr12:g.76347395T>C (hg38)
• PubMed: PMID:16582908 ; PMID:28041643

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.76347395T>C , CM000674.2:g.76347395T>C	GRCh38
NC_000012.11:g.76741175T>C , CM000674.1:g.76741175T>C	GRCh37
NC_000012.10:g.75265306T>C	NCBI36
NG_016357.1:g.6048A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000650064.2:c.590A>G MANE Select	ENSP00000497413.1:p.Tyr197Cys
ENST00000393262.3:c.590A>G	ENSP00000376946.3:p.Tyr197Cys
NM_024685.3:c.590A>G	NP_078961.3:p.Tyr197Cys
NM_024685.4:c.590A>G MANE Select	NP_078961.3:p.Tyr197Cys