Canonical Allele Identifier: CA6694124
Gene: BBS10 HGNC NCBI

Linked Data

ClinVar Variation Id: 850860
ClinVar RCV Id: RCV001055130 RCV001832502 RCV003393818
dbSNP Id: rs758489303
ExAC: 12:76740087 C / T
gnomAD v2: 12-76740087-C-T
gnomAD v3: 12-76346307-C-T
gnomAD v4: 12-76346307-C-T
MyVariant Identifiers: chr12:g.76740087C>T (hg19) chr12:g.76740087_76740088delinsTG (hg19) chr12:g.76346307C>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.76346307C>T , CM000674.2:g.76346307C>T GRCh38
NC_000012.11:g.76740087C>T , CM000674.1:g.76740087C>T GRCh37
NC_000012.10:g.75264218C>T NCBI36
NG_016357.1:g.7136G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000650064.2:c.1678G>A MANE Select ENSP00000497413.1:p.Glu560Lys
ENST00000393262.3:c.1678G>A ENSP00000376946.3:p.Glu560Lys
NM_024685.3:c.1678G>A NP_078961.3:p.Glu560Lys
NM_024685.4:c.1678G>A MANE Select NP_078961.3:p.Glu560Lys
Search 100 bp 5'
Search 100 bp 3'