Canonical Allele Identifier: CA385815453
Gene: BBS10 HGNC NCBI

Linked Data

ClinVar Variation Id: 2133369
ClinVar RCV Id: RCV003040897
MyVariant Identifiers: chr12:g.76741407A>G (hg19) chr12:g.76347627A>G (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.76347627A>G , CM000674.2:g.76347627A>G GRCh38
NC_000012.11:g.76741407A>G , CM000674.1:g.76741407A>G GRCh37
NC_000012.10:g.75265538A>G NCBI36
NG_016357.1:g.5816T>C

Transcript Alleles

HGVS Amino-acid change
ENST00000650064.2:c.358T>C MANE Select ENSP00000497413.1:p.Trp120Arg
ENST00000393262.3:c.358T>C ENSP00000376946.3:p.Trp120Arg
NM_024685.3:c.358T>C NP_078961.3:p.Trp120Arg
NM_024685.4:c.358T>C MANE Select NP_078961.3:p.Trp120Arg
Search 100 bp 5'
Search 100 bp 3'