Canonical Allele Identifier: CA6694338

Gene: BBS10

Linked Data

• ClinVar Variation Id: 310495
• ClinVar RCV Id: RCV000373375 ; RCV001424219
• dbSNP Id: rs754415474
• ExAC: 12:76741305 A / G
• gnomAD v2: 12-76741305-A-G
• gnomAD v4: 12-76347525-A-G
• MyVariant Identifiers: chr12:g.76741305A>G (hg19) ; chr12:g.76347525A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.76347525A>G , CM000674.2:g.76347525A>G	GRCh38
NC_000012.11:g.76741305A>G , CM000674.1:g.76741305A>G	GRCh37
NC_000012.10:g.75265436A>G	NCBI36
NG_016357.1:g.5918T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000650064.2:c.460T>C MANE Select	ENSP00000497413.1:p.Leu154=
ENST00000393262.3:c.460T>C	ENSP00000376946.3:p.Leu154=
NM_024685.3:c.460T>C	NP_078961.3:p.Leu154=
NM_024685.4:c.460T>C MANE Select	NP_078961.3:p.Leu154=