Canonical Allele Identifier: CA2599466265
Gene: BBS10 HGNC NCBI

Linked Data

dbSNP Id: rs951451406
gnomAD v3: 12-76345733-A-C
gnomAD v4: 12-76345733-A-C
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Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.76345733A>C , CM000674.2:g.76345733A>C GRCh38
NC_000012.11:g.76739513A>C , CM000674.1:g.76739513A>C GRCh37
NC_000012.10:g.75263644A>C NCBI36
NG_016357.1:g.7710T>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000650064.2:c.*80T>G MANE Select ENSP00000497413.1:n.*80T>G
ENST00000393262.3:c.*80T>G ENSP00000376946.3:n.*80T>G
NM_024685.3:c.*80T>G NP_078961.3:n.*80T>G
NM_024685.4:c.*80T>G MANE Select NP_078961.3:n.*80T>G
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