Canonical Allele Identifier: CA385810600
Gene: BBS10 HGNC NCBI

Linked Data

ClinVar Variation Id: 2998391
ClinVar RCV Id: RCV003857054
MyVariant Identifiers: chr12:g.76740098T>C (hg19) chr12:g.76346318T>C (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.76346318T>C , CM000674.2:g.76346318T>C GRCh38
NC_000012.11:g.76740098T>C , CM000674.1:g.76740098T>C GRCh37
NC_000012.10:g.75264229T>C NCBI36
NG_016357.1:g.7125A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000650064.2:c.1667A>G MANE Select ENSP00000497413.1:p.Glu556Gly
ENST00000393262.3:c.1667A>G ENSP00000376946.3:p.Glu556Gly
NM_024685.3:c.1667A>G NP_078961.3:p.Glu556Gly
NM_024685.4:c.1667A>G MANE Select NP_078961.3:p.Glu556Gly
Search 100 bp 5'
Search 100 bp 3'