Canonical Allele Identifier: CA2047353137
Gene: BBS10 HGNC NCBI
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Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.76346049T= , CM000674.2:g.76346049T= GRCh38
NC_000012.11:g.76739829T= , CM000674.1:g.76739829T= GRCh37
NC_000012.10:g.75263960T= NCBI36
NG_016357.1:g.7394A=

Transcript Alleles

HGVS Amino-acid Change
ENST00000650064.2:c.1936A= MANE Select ENSP00000497413.1:p.Lys646=
ENST00000393262.3:c.1936A= ENSP00000376946.3:p.Lys646=
NM_024685.3:c.1936A= NP_078961.3:p.Lys646=
NM_024685.4:c.1936A= MANE Select NP_078961.3:p.Lys646=
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