Canonical Allele Identifier: CA2047353242
Gene: BBS10 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.76346289T= , CM000674.2:g.76346289T= GRCh38
NC_000012.11:g.76740069T= , CM000674.1:g.76740069T= GRCh37
NC_000012.10:g.75264200T= NCBI36
NG_016357.1:g.7154A=

Transcript Alleles

HGVS Amino-acid Change
ENST00000650064.2:c.1696A= MANE Select ENSP00000497413.1:p.Asn566=
ENST00000393262.3:c.1696A= ENSP00000376946.3:p.Asn566=
NM_024685.3:c.1696A= NP_078961.3:p.Asn566=
NM_024685.4:c.1696A= MANE Select NP_078961.3:p.Asn566=