Canonical Allele Identifier: CA481010640
Gene: BBS10 HGNC NCBI

Linked Data

ClinVar Variation Id: 1646421
ClinVar RCV Id: RCV002151124
dbSNP Id: rs2136089656
MyVariant Identifiers: chr12:g.76739680C>T (hg19)
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Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.76345900C>T , CM000674.2:g.76345900C>T GRCh38
NC_000012.11:g.76739680C>T , CM000674.1:g.76739680C>T GRCh37
NC_000012.10:g.75263811C>T NCBI36
NG_016357.1:g.7543G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000650064.2:c.2085G>A MANE Select ENSP00000497413.1:p.Leu695=
ENST00000393262.3:c.2085G>A ENSP00000376946.3:p.Leu695=
NM_024685.3:c.2085G>A NP_078961.3:p.Leu695=
NM_024685.4:c.2085G>A MANE Select NP_078961.3:p.Leu695=
Search 100 bp 5'
Search 100 bp 3'