Canonical Allele Identifier: CA385812855
Gene: BBS10 HGNC NCBI

Linked Data

ClinVar Variation Id: 1479360
ClinVar RCV Id: RCV002009781
dbSNP Id: rs1565809819
gnomAD v4: 12-76346904-C-T
MyVariant Identifiers: chr12:g.76740684C>T (hg19) chr12:g.76346904C>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.76346904C>T , CM000674.2:g.76346904C>T GRCh38
NC_000012.11:g.76740684C>T , CM000674.1:g.76740684C>T GRCh37
NC_000012.10:g.75264815C>T NCBI36
NG_016357.1:g.6539G>A

Transcript Alleles

HGVS Amino-acid change
ENST00000650064.2:c.1081G>A MANE Select ENSP00000497413.1:p.Glu361Lys
ENST00000393262.3:c.1081G>A ENSP00000376946.3:p.Glu361Lys
NM_024685.3:c.1081G>A NP_078961.3:p.Glu361Lys
NM_024685.4:c.1081G>A MANE Select NP_078961.3:p.Glu361Lys
Search 100 bp 5'
Search 100 bp 3'