Canonical Allele Identifier: CA385813490
Gene: BBS10 HGNC NCBI

Linked Data

ClinVar Variation Id: 1384612
ClinVar RCV Id: RCV001897717
dbSNP Id: rs2136090741
MyVariant Identifiers: chr12:g.76740819G>C (hg19) chr12:g.76347039G>C (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.76347039G>C , CM000674.2:g.76347039G>C GRCh38
NC_000012.11:g.76740819G>C , CM000674.1:g.76740819G>C GRCh37
NC_000012.10:g.75264950G>C NCBI36
NG_016357.1:g.6404C>G

Transcript Alleles

HGVS Amino-acid change
ENST00000650064.2:c.946C>G MANE Select ENSP00000497413.1:p.Pro316Ala
ENST00000393262.3:c.946C>G ENSP00000376946.3:p.Pro316Ala
NM_024685.3:c.946C>G NP_078961.3:p.Pro316Ala
NM_024685.4:c.946C>G MANE Select NP_078961.3:p.Pro316Ala
Search 100 bp 5'
Search 100 bp 3'