Canonical Allele Identifier: CA385809621
Gene: BBS10 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.76346145G>T , CM000674.2:g.76346145G>T GRCh38
NC_000012.11:g.76739925G>T , CM000674.1:g.76739925G>T GRCh37
NC_000012.10:g.75264056G>T NCBI36
NG_016357.1:g.7298C>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000650064.2:c.1840C>A MANE Select ENSP00000497413.1:p.Leu614Ile
ENST00000393262.3:c.1840C>A ENSP00000376946.3:p.Leu614Ile
NM_024685.3:c.1840C>A NP_078961.3:p.Leu614Ile
NM_024685.4:c.1840C>A MANE Select NP_078961.3:p.Leu614Ile