Canonical Allele Identifier: CA2047353237
Gene: BBS10 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.76346276T= , CM000674.2:g.76346276T= GRCh38
NC_000012.11:g.76740056T= , CM000674.1:g.76740056T= GRCh37
NC_000012.10:g.75264187T= NCBI36
NG_016357.1:g.7167A=

Transcript Alleles

HGVS Amino-acid Change
ENST00000650064.2:c.1709A= MANE Select ENSP00000497413.1:p.Lys570=
ENST00000393262.3:c.1709A= ENSP00000376946.3:p.Lys570=
NM_024685.3:c.1709A= NP_078961.3:p.Lys570=
NM_024685.4:c.1709A= MANE Select NP_078961.3:p.Lys570=