Canonical Allele Identifier: CA2047353245
Gene: BBS10 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.76346293G= , CM000674.2:g.76346293G= GRCh38
NC_000012.11:g.76740073G= , CM000674.1:g.76740073G= GRCh37
NC_000012.10:g.75264204G= NCBI36
NG_016357.1:g.7150C=

Transcript Alleles

HGVS Amino-acid Change
ENST00000650064.2:c.1692C= MANE Select ENSP00000497413.1:p.Val564=
ENST00000393262.3:c.1692C= ENSP00000376946.3:p.Val564=
NM_024685.3:c.1692C= NP_078961.3:p.Val564=
NM_024685.4:c.1692C= MANE Select NP_078961.3:p.Val564=