Canonical Allele Identifier: CA6694260
Gene: BBS10 HGNC NCBI

Linked Data

ClinVar Variation Id: 1195899
ClinVar RCV Id: RCV001559162
dbSNP Id: rs769233464
ExAC: 12:76740810 C / G
gnomAD v3: 12-76347030-C-G
gnomAD v4: 12-76347030-C-G
MyVariant Identifiers: chr12:g.76740810C>G (hg19) chr12:g.76347030C>G (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.76347030C>G , CM000674.2:g.76347030C>G GRCh38
NC_000012.11:g.76740810C>G , CM000674.1:g.76740810C>G GRCh37
NC_000012.10:g.75264941C>G NCBI36
NG_016357.1:g.6413G>C

Transcript Alleles

HGVS Amino-acid change
ENST00000650064.2:c.955G>C MANE Select ENSP00000497413.1:p.Val319Leu
ENST00000393262.3:c.955G>C ENSP00000376946.3:p.Val319Leu
NM_024685.3:c.955G>C NP_078961.3:p.Val319Leu
NM_024685.4:c.955G>C MANE Select NP_078961.3:p.Val319Leu
Search 100 bp 5'
Search 100 bp 3'