Canonical Allele Identifier: CA274166
Gene: BBS10 HGNC NCBI
MyVariant.info:
GRCh38 chr12:g.76346744A>G
GRCh37 chr12:g.76740524A>G
Revel Score:
ENST00000393262 0.656
gnomAD v2:
12:76740524 A / G
gnomAD v3:
12:76346744 A / G
gnomAD v4:
chr12-76346744-A-G
Joint Max Group AF 0.00001144 (NFE)
Genomes Max Group AF 0.00001171 (NFE)
Exomes Max Group AF 0.00001012 (NFE)
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Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.76346744A>G , CM000674.2:g.76346744A>G GRCh38
NC_000012.11:g.76740524A>G , CM000674.1:g.76740524A>G GRCh37
NC_000012.10:g.75264655A>G NCBI36
NG_016357.1:g.6699T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000650064.2:c.1241T>C MANE Select ENSP00000497413.1:p.Leu414Ser
ENST00000393262.3:c.1241T>C ENSP00000376946.3:p.Leu414Ser
NM_024685.3:c.1241T>C NP_078961.3:p.Leu414Ser
NM_024685.4:c.1241T>C MANE Select NP_078961.3:p.Leu414Ser
Search 100 bp 5'
Search 100 bp 3'