Canonical Allele Identifier: CA239331757

Gene: BBS10

Linked Data

• ClinVar Variation Id: 434487
• ClinVar RCV Id: RCV000503944 ; RCV001192908
• dbSNP Id: rs898539189
• gnomAD v2: 12-76740270-C-A
• gnomAD v3: 12-76346490-C-A
• gnomAD v4: 12-76346490-C-A
• MyVariant Identifiers: chr12:g.76740270C>A (hg19) ; chr12:g.76346490C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.76346490C>A , CM000674.2:g.76346490C>A	GRCh38
NC_000012.11:g.76740270C>A , CM000674.1:g.76740270C>A	GRCh37
NC_000012.10:g.75264401C>A	NCBI36
NG_016357.1:g.6953G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000650064.2:c.1495G>T MANE Select	ENSP00000497413.1:p.Glu499Ter
ENST00000393262.3:c.1495G>T	ENSP00000376946.3:p.Glu499Ter
NM_024685.3:c.1495G>T	NP_078961.3:p.Glu499Ter
NM_024685.4:c.1495G>T MANE Select	NP_078961.3:p.Glu499Ter