Canonical Allele Identifier: CA606185886
Gene: BBS10 HGNC NCBI

Linked Data

dbSNP Id: rs1347416021
gnomAD v2: 12-76739578-T-G
gnomAD v3: 12-76345798-T-G
gnomAD v4: 12-76345798-T-G
MyVariant Identifiers: chr12:g.76739578T>G (hg19) chr12:g.76345798T>G (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.76345798T>G , CM000674.2:g.76345798T>G GRCh38
NC_000012.11:g.76739578T>G , CM000674.1:g.76739578T>G GRCh37
NC_000012.10:g.75263709T>G NCBI36
NG_016357.1:g.7645A>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000650064.2:c.*15A>C MANE Select ENSP00000497413.1:n.*15A>C
ENST00000393262.3:c.*15A>C ENSP00000376946.3:n.*15A>C
NM_024685.3:c.*15A>C NP_078961.3:n.*15A>C
NM_024685.4:c.*15A>C MANE Select NP_078961.3:n.*15A>C
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