Canonical Allele Identifier: CA6694437

Gene: BBS10

Linked Data

• ClinVar Variation Id: 310499
• ClinVar RCV Id: RCV000391611 ; RCV003910149
• dbSNP Id: rs373458861
• ExAC: 12:76742097 C / T
• gnomAD v2: 12-76742097-C-T
• gnomAD v3: 12-76348317-C-T
• gnomAD v4: 12-76348317-C-T
• MyVariant Identifiers: chr12:g.76742097C>T (hg19) ; chr12:g.76348317C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.76348317C>T , CM000674.2:g.76348317C>T	GRCh38
NC_000012.11:g.76742097C>T , CM000674.1:g.76742097C>T	GRCh37
NC_000012.10:g.75266228C>T	NCBI36
NG_016357.1:g.5126G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000650064.2:c.42G>A MANE Select	ENSP00000497413.1:p.Ala14=
ENST00000393262.3:c.42G>A	ENSP00000376946.3:p.Ala14=
NM_024685.3:c.42G>A	NP_078961.3:p.Ala14=
NM_024685.4:c.42G>A MANE Select	NP_078961.3:p.Ala14=