Canonical Allele Identifier: CA6694113
Gene: BBS10 HGNC NCBI

Linked Data

ClinVar Variation Id: 862004
ClinVar RCV Id: RCV001068635 RCV001827453 RCV003413889
dbSNP Id: rs762432475
ExAC: 12:76740023 G / A
gnomAD v2: 12-76740023-G-A
gnomAD v3: 12-76346243-G-A
gnomAD v4: 12-76346243-G-A
MyVariant Identifiers: chr12:g.76740023G>A (hg19) chr12:g.76346243G>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.76346243G>A , CM000674.2:g.76346243G>A GRCh38
NC_000012.11:g.76740023G>A , CM000674.1:g.76740023G>A GRCh37
NC_000012.10:g.75264154G>A NCBI36
NG_016357.1:g.7200C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000650064.2:c.1742C>T MANE Select ENSP00000497413.1:p.Pro581Leu
ENST00000393262.3:c.1742C>T ENSP00000376946.3:p.Pro581Leu
NM_024685.3:c.1742C>T NP_078961.3:p.Pro581Leu
NM_024685.4:c.1742C>T MANE Select NP_078961.3:p.Pro581Leu
Search 100 bp 5'
Search 100 bp 3'