Canonical Allele Identifier: CA2047353260
Gene: BBS10 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.76346328T= , CM000674.2:g.76346328T= GRCh38
NC_000012.11:g.76740108T= , CM000674.1:g.76740108T= GRCh37
NC_000012.10:g.75264239T= NCBI36
NG_016357.1:g.7115A=

Transcript Alleles

HGVS Amino-acid change
ENST00000650064.2:c.1657A= MANE Select ENSP00000497413.1:p.Asn553=
ENST00000393262.3:c.1657A= ENSP00000376946.3:p.Asn553=
NM_024685.3:c.1657A= NP_078961.3:p.Asn553=
NM_024685.4:c.1657A= MANE Select NP_078961.3:p.Asn553=