Canonical Allele Identifier: CA481010591
Gene: BBS10 HGNC NCBI

Linked Data

ClinVar Variation Id: 2055780
ClinVar RCV Id: RCV002947334
gnomAD v4: 12-76345890-A-G
MyVariant Identifiers: chr12:g.76739670A>G (hg19)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.76345890A>G , CM000674.2:g.76345890A>G GRCh38
NC_000012.11:g.76739670A>G , CM000674.1:g.76739670A>G GRCh37
NC_000012.10:g.75263801A>G NCBI36
NG_016357.1:g.7553T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000650064.2:c.2095T>C MANE Select ENSP00000497413.1:p.Leu699=
ENST00000393262.3:c.2095T>C ENSP00000376946.3:p.Leu699=
NM_024685.3:c.2095T>C NP_078961.3:p.Leu699=
NM_024685.4:c.2095T>C MANE Select NP_078961.3:p.Leu699=
Search 100 bp 5'
Search 100 bp 3'