Canonical Allele Identifier: CA385813230
Gene: BBS10 HGNC NCBI

Linked Data

dbSNP Id: rs756848031
gnomAD v2: 12-76740769-C-G
gnomAD v4: 12-76346989-C-G
MyVariant Identifiers: chr12:g.76740769C>G (hg19) chr12:g.76346989C>G (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.76346989C>G , CM000674.2:g.76346989C>G GRCh38
NC_000012.11:g.76740769C>G , CM000674.1:g.76740769C>G GRCh37
NC_000012.10:g.75264900C>G NCBI36
NG_016357.1:g.6454G>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000650064.2:c.996G>C MANE Select ENSP00000497413.1:p.Glu332Asp
ENST00000393262.3:c.996G>C ENSP00000376946.3:p.Glu332Asp
NM_024685.3:c.996G>C NP_078961.3:p.Glu332Asp
NM_024685.4:c.996G>C MANE Select NP_078961.3:p.Glu332Asp
Search 100 bp 5'
Search 100 bp 3'