Canonical Allele Identifier: CA385813606

Gene: BBS10

Linked Data

• ClinVar Variation Id: 2431453
• ClinVar RCV Id: RCV003140507
• gnomAD v4: 12-76347062-A-G
• MyVariant Identifiers: chr12:g.76740842A>G (hg19) ; chr12:g.76347062A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.76347062A>G , CM000674.2:g.76347062A>G	GRCh38
NC_000012.11:g.76740842A>G , CM000674.1:g.76740842A>G	GRCh37
NC_000012.10:g.75264973A>G	NCBI36
NG_016357.1:g.6381T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000650064.2:c.923T>C MANE Select	ENSP00000497413.1:p.Leu308Ser
ENST00000393262.3:c.923T>C	ENSP00000376946.3:p.Leu308Ser
NM_024685.3:c.923T>C	NP_078961.3:p.Leu308Ser
NM_024685.4:c.923T>C MANE Select	NP_078961.3:p.Leu308Ser