Canonical Allele Identifier: CA2047353062
Gene: BBS10 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.76345862T= , CM000674.2:g.76345862T= GRCh38
NC_000012.11:g.76739642T= , CM000674.1:g.76739642T= GRCh37
NC_000012.10:g.75263773T= NCBI36
NG_016357.1:g.7581A=

Transcript Alleles

HGVS Amino-acid Change
ENST00000650064.2:c.2123A= MANE Select ENSP00000497413.1:p.Lys708=
ENST00000393262.3:c.2123A= ENSP00000376946.3:p.Lys708=
NM_024685.3:c.2123A= NP_078961.3:p.Lys708=
NM_024685.4:c.2123A= MANE Select NP_078961.3:p.Lys708=