Canonical Allele Identifier: CA2047353167
Gene: BBS10 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.76346113T= , CM000674.2:g.76346113T= GRCh38
NC_000012.11:g.76739893T= , CM000674.1:g.76739893T= GRCh37
NC_000012.10:g.75264024T= NCBI36
NG_016357.1:g.7330A=

Transcript Alleles

HGVS Amino-acid Change
ENST00000650064.2:c.1872A= MANE Select ENSP00000497413.1:p.Ser624=
ENST00000393262.3:c.1872A= ENSP00000376946.3:p.Ser624=
NM_024685.3:c.1872A= NP_078961.3:p.Ser624=
NM_024685.4:c.1872A= MANE Select NP_078961.3:p.Ser624=