Canonical Allele Identifier: CA6694180
Gene: BBS10 HGNC NCBI

Linked Data

ClinVar Variation Id: 370512
ClinVar RCV Id: RCV000409848 RCV001041782
dbSNP Id: rs759682922
ExAC: 12:76740374 G / C
gnomAD v2: 12-76740374-G-C
gnomAD v4: 12-76346594-G-C
MyVariant Identifiers: chr12:g.76740374G>C (hg19) chr12:g.76346594G>C (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.76346594G>C , CM000674.2:g.76346594G>C GRCh38
NC_000012.11:g.76740374G>C , CM000674.1:g.76740374G>C GRCh37
NC_000012.10:g.75264505G>C NCBI36
NG_016357.1:g.6849C>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000650064.2:c.1391C>G MANE Select ENSP00000497413.1:p.Ser464Ter
ENST00000393262.3:c.1391C>G ENSP00000376946.3:p.Ser464Ter
NM_024685.3:c.1391C>G NP_078961.3:p.Ser464Ter
NM_024685.4:c.1391C>G MANE Select NP_078961.3:p.Ser464Ter
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