Canonical Allele Identifier: CA481010465
Gene: BBS10 HGNC NCBI

Linked Data

MyVariant Identifiers: chr12:g.76739632A>C (hg19)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.76345852A>C , CM000674.2:g.76345852A>C GRCh38
NC_000012.11:g.76739632A>C , CM000674.1:g.76739632A>C GRCh37
NC_000012.10:g.75263763A>C NCBI36
NG_016357.1:g.7591T>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000650064.2:c.2133T>G MANE Select ENSP00000497413.1:p.Pro711=
ENST00000393262.3:c.2133T>G ENSP00000376946.3:p.Pro711=
NM_024685.3:c.2133T>G NP_078961.3:p.Pro711=
NM_024685.4:c.2133T>G MANE Select NP_078961.3:p.Pro711=
Search 100 bp 5'
Search 100 bp 3'