Canonical Allele Identifier: CA385808414
Gene: BBS10 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.76345933T>A , CM000674.2:g.76345933T>A GRCh38
NC_000012.11:g.76739713T>A , CM000674.1:g.76739713T>A GRCh37
NC_000012.10:g.75263844T>A NCBI36
NG_016357.1:g.7510A>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000650064.2:c.2052A>T MANE Select ENSP00000497413.1:p.Lys684Asn
ENST00000393262.3:c.2052A>T ENSP00000376946.3:p.Lys684Asn
NM_024685.3:c.2052A>T NP_078961.3:p.Lys684Asn
NM_024685.4:c.2052A>T MANE Select NP_078961.3:p.Lys684Asn