Canonical Allele Identifier: CA6694251
Gene: BBS10 HGNC NCBI

Linked Data

dbSNP Id: rs753411602
ExAC: 12:76740759 A / G
gnomAD v4: 12-76346979-A-G
MyVariant Identifiers: chr12:g.76740759A>G (hg19) chr12:g.76346979A>G (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.76346979A>G , CM000674.2:g.76346979A>G GRCh38
NC_000012.11:g.76740759A>G , CM000674.1:g.76740759A>G GRCh37
NC_000012.10:g.75264890A>G NCBI36
NG_016357.1:g.6464T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000650064.2:c.1006T>C MANE Select ENSP00000497413.1:p.Ser336Pro
ENST00000393262.3:c.1006T>C ENSP00000376946.3:p.Ser336Pro
NM_024685.3:c.1006T>C NP_078961.3:p.Ser336Pro
NM_024685.4:c.1006T>C MANE Select NP_078961.3:p.Ser336Pro
Search 100 bp 5'
Search 100 bp 3'