Canonical Allele Identifier: CA6694083
Gene: BBS10 HGNC NCBI

Linked Data

ClinVar Variation Id: 1136956
ClinVar RCV Id: RCV001472781 RCV002495701 RCV003938844
dbSNP Id: rs201449351
ExAC: 12:76739842 G / A
gnomAD v2: 12-76739842-G-A
gnomAD v3: 12-76346062-G-A
gnomAD v4: 12-76346062-G-A
MyVariant Identifiers: chr12:g.76739842G>A (hg19) chr12:g.76346062G>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.76346062G>A , CM000674.2:g.76346062G>A GRCh38
NC_000012.11:g.76739842G>A , CM000674.1:g.76739842G>A GRCh37
NC_000012.10:g.75263973G>A NCBI36
NG_016357.1:g.7381C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000650064.2:c.1923C>T MANE Select ENSP00000497413.1:p.Pro641=
ENST00000393262.3:c.1923C>T ENSP00000376946.3:p.Pro641=
NM_024685.3:c.1923C>T NP_078961.3:p.Pro641=
NM_024685.4:c.1923C>T MANE Select NP_078961.3:p.Pro641=
Search 100 bp 5'
Search 100 bp 3'