Canonical Allele Identifier: CA16041577
Gene: BBS10 HGNC NCBI

Linked Data

ClinVar Variation Id: 371499
ClinVar RCV Id: RCV000409664 RCV001850959
dbSNP Id: rs375413604
gnomAD v2: 12-76740088-G-C
gnomAD v4: 12-76346308-G-C
MyVariant Identifiers: chr12:g.76740088G>C (hg19) chr12:g.76346308G>C (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.76346308G>C , CM000674.2:g.76346308G>C GRCh38
NC_000012.11:g.76740088G>C , CM000674.1:g.76740088G>C GRCh37
NC_000012.10:g.75264219G>C NCBI36
NG_016357.1:g.7135C>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000650064.2:c.1677C>G MANE Select ENSP00000497413.1:p.Tyr559Ter
ENST00000393262.3:c.1677C>G ENSP00000376946.3:p.Tyr559Ter
NM_024685.3:c.1677C>G NP_078961.3:p.Tyr559Ter
NM_024685.4:c.1677C>G MANE Select NP_078961.3:p.Tyr559Ter
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