Canonical Allele Identifier: CA6694131
Gene: BBS10 HGNC NCBI

Linked Data

ClinVar Variation Id: 857905
ClinVar RCV Id: RCV001063673
dbSNP Id: rs770880993
ExAC: 12:76740125 G / T
gnomAD v2: 12-76740125-G-T
gnomAD v4: 12-76346345-G-T
MyVariant Identifiers: chr12:g.76740125G>T (hg19) chr12:g.76346345G>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.76346345G>T , CM000674.2:g.76346345G>T GRCh38
NC_000012.11:g.76740125G>T , CM000674.1:g.76740125G>T GRCh37
NC_000012.10:g.75264256G>T NCBI36
NG_016357.1:g.7098C>A

Transcript Alleles

HGVS Amino-acid change
ENST00000650064.2:c.1640C>A MANE Select ENSP00000497413.1:p.Ala547Asp
ENST00000393262.3:c.1640C>A ENSP00000376946.3:p.Ala547Asp
NM_024685.3:c.1640C>A NP_078961.3:p.Ala547Asp
NM_024685.4:c.1640C>A MANE Select NP_078961.3:p.Ala547Asp
Search 100 bp 5'
Search 100 bp 3'