Canonical Allele Identifier: CA336971
Gene: BBS10 HGNC NCBI

Linked Data

ClinVar Variation Id: 216765
ClinVar RCV Id: RCV000197080 RCV001828036
dbSNP Id: rs863224793
gnomAD v4: 12-76346800-G-C
MyVariant Identifiers: chr12:g.76740580G>C (hg19) chr12:g.76346800G>C (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.76346800G>C , CM000674.2:g.76346800G>C GRCh38
NC_000012.11:g.76740580G>C , CM000674.1:g.76740580G>C GRCh37
NC_000012.10:g.75264711G>C NCBI36
NG_016357.1:g.6643C>G

Transcript Alleles

HGVS Amino-acid change
ENST00000650064.2:c.1185C>G MANE Select ENSP00000497413.1:p.His395Gln
ENST00000393262.3:c.1185C>G ENSP00000376946.3:p.His395Gln
NM_024685.3:c.1185C>G NP_078961.3:p.His395Gln
NM_024685.4:c.1185C>G MANE Select NP_078961.3:p.His395Gln
Search 100 bp 5'
Search 100 bp 3'