Canonical Allele Identifier: CA2047353042
Gene: BBS10 HGNC NCBI
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Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.76345818G= , CM000674.2:g.76345818G= GRCh38
NC_000012.11:g.76739598G= , CM000674.1:g.76739598G= GRCh37
NC_000012.10:g.75263729G= NCBI36
NG_016357.1:g.7625C=

Transcript Alleles

HGVS Amino-acid Change
ENST00000650064.2:c.2167C= MANE Select ENSP00000497413.1:p.Leu723=
ENST00000393262.3:c.2167C= ENSP00000376946.3:p.Leu723=
NM_024685.3:c.2167C= NP_078961.3:p.Leu723=
NM_024685.4:c.2167C= MANE Select NP_078961.3:p.Leu723=
Search 100 bp 5'
Search 100 bp 3'