Canonical Allele Identifier: CA239331396
Gene: BBS10 HGNC NCBI

Linked Data

ClinVar Variation Id: 1425681
ClinVar RCV Id: RCV001926831
dbSNP Id: rs1003705267
gnomAD v4: 12-76345818-G-C
MyVariant Identifiers: chr12:g.76739598G>C (hg19) chr12:g.76345818G>C (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.76345818G>C , CM000674.2:g.76345818G>C GRCh38
NC_000012.11:g.76739598G>C , CM000674.1:g.76739598G>C GRCh37
NC_000012.10:g.75263729G>C NCBI36
NG_016357.1:g.7625C>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000650064.2:c.2167C>G MANE Select ENSP00000497413.1:p.Leu723Val
ENST00000393262.3:c.2167C>G ENSP00000376946.3:p.Leu723Val
NM_024685.3:c.2167C>G NP_078961.3:p.Leu723Val
NM_024685.4:c.2167C>G MANE Select NP_078961.3:p.Leu723Val
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