Canonical Allele Identifier: CA2047353214
Gene: BBS10 HGNC NCBI
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Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.76346231G= , CM000674.2:g.76346231G= GRCh38
NC_000012.11:g.76740011G= , CM000674.1:g.76740011G= GRCh37
NC_000012.10:g.75264142G= NCBI36
NG_016357.1:g.7212C=

Transcript Alleles

HGVS Amino-acid Change
ENST00000650064.2:c.1754C= MANE Select ENSP00000497413.1:p.Thr585=
ENST00000393262.3:c.1754C= ENSP00000376946.3:p.Thr585=
NM_024685.3:c.1754C= NP_078961.3:p.Thr585=
NM_024685.4:c.1754C= MANE Select NP_078961.3:p.Thr585=
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