Canonical Allele Identifier: CA385813560
Gene: BBS10 HGNC NCBI

Linked Data

ClinVar Variation Id: 1019685
ClinVar RCV Id: RCV001319159
dbSNP Id: rs1951764875
gnomAD v4: 12-76347053-G-A
MyVariant Identifiers: chr12:g.76740833G>A (hg19) chr12:g.76347053G>A (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.76347053G>A , CM000674.2:g.76347053G>A GRCh38
NC_000012.11:g.76740833G>A , CM000674.1:g.76740833G>A GRCh37
NC_000012.10:g.75264964G>A NCBI36
NG_016357.1:g.6390C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000650064.2:c.932C>T MANE Select ENSP00000497413.1:p.Ser311Phe
ENST00000393262.3:c.932C>T ENSP00000376946.3:p.Ser311Phe
NM_024685.3:c.932C>T NP_078961.3:p.Ser311Phe
NM_024685.4:c.932C>T MANE Select NP_078961.3:p.Ser311Phe
Search 100 bp 5'
Search 100 bp 3'