Canonical Allele Identifier: CA2047353085
Gene: BBS10 HGNC NCBI
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Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.76345923G= , CM000674.2:g.76345923G= GRCh38
NC_000012.11:g.76739703G= , CM000674.1:g.76739703G= GRCh37
NC_000012.10:g.75263834G= NCBI36
NG_016357.1:g.7520C=

Transcript Alleles

HGVS Amino-acid Change
ENST00000650064.2:c.2062C= MANE Select ENSP00000497413.1:p.Leu688=
ENST00000393262.3:c.2062C= ENSP00000376946.3:p.Leu688=
NM_024685.3:c.2062C= NP_078961.3:p.Leu688=
NM_024685.4:c.2062C= MANE Select NP_078961.3:p.Leu688=
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