Canonical Allele Identifier: CA481010696
Gene: BBS10 HGNC NCBI

Linked Data

MyVariant Identifiers: chr12:g.76739692A>G (hg19)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.76345912A>G , CM000674.2:g.76345912A>G GRCh38
NC_000012.11:g.76739692A>G , CM000674.1:g.76739692A>G GRCh37
NC_000012.10:g.75263823A>G NCBI36
NG_016357.1:g.7531T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000650064.2:c.2073T>C MANE Select ENSP00000497413.1:p.Val691=
ENST00000393262.3:c.2073T>C ENSP00000376946.3:p.Val691=
NM_024685.3:c.2073T>C NP_078961.3:p.Val691=
NM_024685.4:c.2073T>C MANE Select NP_078961.3:p.Val691=
Search 100 bp 5'
Search 100 bp 3'