Canonical Allele Identifier: CA239332161

Gene: BBS10

Linked Data

• ClinVar Variation Id: 1400062
• ClinVar RCV Id: RCV001917996
• dbSNP Id: rs954562822
• gnomAD v4: 12-76347081-G-A
• MyVariant Identifiers: chr12:g.76740861G>A (hg19) ; chr12:g.76347081G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.76347081G>A , CM000674.2:g.76347081G>A	GRCh38
NC_000012.11:g.76740861G>A , CM000674.1:g.76740861G>A	GRCh37
NC_000012.10:g.75264992G>A	NCBI36
NG_016357.1:g.6362C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000650064.2:c.904C>T MANE Select	ENSP00000497413.1:p.His302Tyr
ENST00000393262.3:c.904C>T	ENSP00000376946.3:p.His302Tyr
NM_024685.3:c.904C>T	NP_078961.3:p.His302Tyr
NM_024685.4:c.904C>T MANE Select	NP_078961.3:p.His302Tyr