Canonical Allele Identifier: CA385813506
Gene: BBS10 HGNC NCBI

Linked Data

ClinVar Variation Id: 813432
ClinVar RCV Id: RCV001004384
dbSNP Id: rs1592492255
MyVariant Identifiers: chr12:g.76740822G>A (hg19) chr12:g.76347042G>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.76347042G>A , CM000674.2:g.76347042G>A GRCh38
NC_000012.11:g.76740822G>A , CM000674.1:g.76740822G>A GRCh37
NC_000012.10:g.75264953G>A NCBI36
NG_016357.1:g.6401C>T

Transcript Alleles

HGVS Amino-acid change
ENST00000650064.2:c.943C>T MANE Select ENSP00000497413.1:p.Gln315Ter
ENST00000393262.3:c.943C>T ENSP00000376946.3:p.Gln315Ter
NM_024685.3:c.943C>T NP_078961.3:p.Gln315Ter
NM_024685.4:c.943C>T MANE Select NP_078961.3:p.Gln315Ter
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