Canonical Allele Identifier: CA385816113

Gene: BBS10

Linked Data

• ClinVar Variation Id: 522272
• ClinVar RCV Id: RCV000625185 ; RCV000763309 ; RCV001383856 ; RCV001579764
• dbSNP Id: rs1460517643
• gnomAD v2: 12-76741975-A-G
• gnomAD v3: 12-76348195-A-G
• gnomAD v4: 12-76348195-A-G
• MyVariant Identifiers: chr12:g.76741975A>G (hg19) ; chr12:g.76348195A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.76348195A>G , CM000674.2:g.76348195A>G	GRCh38
NC_000012.11:g.76741975A>G , CM000674.1:g.76741975A>G	GRCh37
NC_000012.10:g.75266106A>G	NCBI36
NG_016357.1:g.5248T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000650064.2:c.164T>C MANE Select	ENSP00000497413.1:p.Leu55Pro
ENST00000393262.3:c.164T>C	ENSP00000376946.3:p.Leu55Pro
NM_024685.3:c.164T>C	NP_078961.3:p.Leu55Pro
NM_024685.4:c.164T>C MANE Select	NP_078961.3:p.Leu55Pro