Canonical Allele Identifier: CA6694112
Gene: BBS10 HGNC NCBI

Linked Data

ClinVar Variation Id: 697338
ClinVar RCV Id: RCV000864135 RCV001274500
dbSNP Id: rs150530553
ExAC: 12:76740022 C / T
gnomAD v2: 12-76740022-C-T
gnomAD v3: 12-76346242-C-T
gnomAD v4: 12-76346242-C-T
MyVariant Identifiers: chr12:g.76740022C>T (hg19) chr12:g.76346242C>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.76346242C>T , CM000674.2:g.76346242C>T GRCh38
NC_000012.11:g.76740022C>T , CM000674.1:g.76740022C>T GRCh37
NC_000012.10:g.75264153C>T NCBI36
NG_016357.1:g.7201G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000650064.2:c.1743G>A MANE Select ENSP00000497413.1:p.Pro581=
ENST00000393262.3:c.1743G>A ENSP00000376946.3:p.Pro581=
NM_024685.3:c.1743G>A NP_078961.3:p.Pro581=
NM_024685.4:c.1743G>A MANE Select NP_078961.3:p.Pro581=
Search 100 bp 5'
Search 100 bp 3'