Canonical Allele Identifier: CA2047353558
Gene: BBS10 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.76346949T= , CM000674.2:g.76346949T= GRCh38
NC_000012.11:g.76740729T= , CM000674.1:g.76740729T= GRCh37
NC_000012.10:g.75264860T= NCBI36
NG_016357.1:g.6494A=

Transcript Alleles

HGVS Amino-acid Change
ENST00000650064.2:c.1036A= MANE Select ENSP00000497413.1:p.Ile346=
ENST00000393262.3:c.1036A= ENSP00000376946.3:p.Ile346=
NM_024685.3:c.1036A= NP_078961.3:p.Ile346=
NM_024685.4:c.1036A= MANE Select NP_078961.3:p.Ile346=