Canonical Allele Identifier: CA265990

Gene: BBS10

Linked Data

• ClinVar Variation Id: 68063
• ClinVar RCV Id: RCV000058867 ; RCV003221799
• dbSNP Id: rs199474722
• COSMIC: COSM1677194
• MyVariant Identifiers: chr12:g.76740563C>T (hg19) ; chr12:g.76346783C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.76346783C>T , CM000674.2:g.76346783C>T	GRCh38
NC_000012.11:g.76740563C>T , CM000674.1:g.76740563C>T	GRCh37
NC_000012.10:g.75264694C>T	NCBI36
NG_016357.1:g.6660G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000650064.2:c.1202G>A MANE Select	ENSP00000497413.1:p.Gly401Glu
ENST00000393262.3:c.1202G>A	ENSP00000376946.3:p.Gly401Glu
NM_024685.3:c.1202G>A	NP_078961.3:p.Gly401Glu
NM_024685.4:c.1202G>A MANE Select	NP_078961.3:p.Gly401Glu