Canonical Allele Identifier: CA6694173

Gene: BBS10

Linked Data

• ClinVar Variation Id: 499947
• ClinVar RCV Id: RCV000591353 ; RCV000680159 ; RCV001244429 ; RCV003980090
• dbSNP Id: rs138434761
• ExAC: 12:76740329 G / T
• gnomAD v2: 12-76740329-G-T
• gnomAD v3: 12-76346549-G-T
• gnomAD v4: 12-76346549-G-T
• MyVariant Identifiers: chr12:g.76740329G>T (hg19) ; chr12:g.76346549G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.76346549G>T , CM000674.2:g.76346549G>T	GRCh38
NC_000012.11:g.76740329G>T , CM000674.1:g.76740329G>T	GRCh37
NC_000012.10:g.75264460G>T	NCBI36
NG_016357.1:g.6894C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000650064.2:c.1436C>A MANE Select	ENSP00000497413.1:p.Ala479Glu
ENST00000393262.3:c.1436C>A	ENSP00000376946.3:p.Ala479Glu
NM_024685.3:c.1436C>A	NP_078961.3:p.Ala479Glu
NM_024685.4:c.1436C>A MANE Select	NP_078961.3:p.Ala479Glu