Canonical Allele Identifier: CA2047353864
Community Standard Title: NM_024685.4(BBS10):c.361A= (p.Lys121=)
Gene: BBS10 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.76347624T= , CM000674.2:g.76347624T= GRCh38
NC_000012.11:g.76741404T= , CM000674.1:g.76741404T= GRCh37
NC_000012.10:g.75265535T= NCBI36
NG_016357.1:g.5819A=

Transcript Alleles

HGVS Amino-acid Change
NM_024685.4:c.361A= MANE Select NP_078961.3:p.Lys121=
ENST00000650064.2:c.361A= MANE Select ENSP00000497413.1:p.Lys121=
NM_024685.3:c.361A= NP_078961.3:p.Lys121=
ENST00000393262.3:c.361A= ENSP00000376946.3:p.Lys121=