Canonical Allele Identifier: CA2047353186
Gene: BBS10 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.76346156A= , CM000674.2:g.76346156A= GRCh38
NC_000012.11:g.76739936A= , CM000674.1:g.76739936A= GRCh37
NC_000012.10:g.75264067A= NCBI36
NG_016357.1:g.7287T=

Transcript Alleles

HGVS Amino-acid Change
ENST00000650064.2:c.1829T= MANE Select ENSP00000497413.1:p.Leu610=
ENST00000393262.3:c.1829T= ENSP00000376946.3:p.Leu610=
NM_024685.3:c.1829T= NP_078961.3:p.Leu610=
NM_024685.4:c.1829T= MANE Select NP_078961.3:p.Leu610=