Canonical Allele Identifier: CA385808368
Gene: BBS10 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.76345911G>A , CM000674.2:g.76345911G>A GRCh38
NC_000012.11:g.76739691G>A , CM000674.1:g.76739691G>A GRCh37
NC_000012.10:g.75263822G>A NCBI36
NG_016357.1:g.7532C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000650064.2:c.2074C>T MANE Select ENSP00000497413.1:p.Leu692Phe
ENST00000393262.3:c.2074C>T ENSP00000376946.3:p.Leu692Phe
NM_024685.3:c.2074C>T NP_078961.3:p.Leu692Phe
NM_024685.4:c.2074C>T MANE Select NP_078961.3:p.Leu692Phe