Canonical Allele Identifier: CA6694290

Gene: BBS10

Linked Data

• ClinVar Variation Id: 235677
• ClinVar RCV Id: RCV000224072 ; RCV000625184 ; RCV000801717 ; RCV000667212 ; RCV001706242 ; RCV003417800
• dbSNP Id: rs139658279
• ExAC: 12:76741000 C / T
• gnomAD v2: 12-76741000-C-T
• gnomAD v3: 12-76347220-C-T
• gnomAD v4: 12-76347220-C-T
• MyVariant Identifiers: chr12:g.76741000C>T (hg19) ; chr12:g.76347220C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.76347220C>T , CM000674.2:g.76347220C>T	GRCh38
NC_000012.11:g.76741000C>T , CM000674.1:g.76741000C>T	GRCh37
NC_000012.10:g.75265131C>T	NCBI36
NG_016357.1:g.6223G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000650064.2:c.765G>A MANE Select	ENSP00000497413.1:p.Met255Ile
ENST00000393262.3:c.765G>A	ENSP00000376946.3:p.Met255Ile
NM_024685.3:c.765G>A	NP_078961.3:p.Met255Ile
NM_024685.4:c.765G>A MANE Select	NP_078961.3:p.Met255Ile