Canonical Allele Identifier: CA481010539
Gene: BBS10 HGNC NCBI

Linked Data

ClinVar Variation Id: 2797989
ClinVar RCV Id: RCV003634463
dbSNP Id: rs1951753330
gnomAD v4: 12-76345879-G-A
MyVariant Identifiers: chr12:g.76739659G>A (hg19)
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Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.76345879G>A , CM000674.2:g.76345879G>A GRCh38
NC_000012.11:g.76739659G>A , CM000674.1:g.76739659G>A GRCh37
NC_000012.10:g.75263790G>A NCBI36
NG_016357.1:g.7564C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000650064.2:c.2106C>T MANE Select ENSP00000497413.1:p.Asp702=
ENST00000393262.3:c.2106C>T ENSP00000376946.3:p.Asp702=
NM_024685.3:c.2106C>T NP_078961.3:p.Asp702=
NM_024685.4:c.2106C>T MANE Select NP_078961.3:p.Asp702=
Search 100 bp 5'
Search 100 bp 3'