Canonical Allele Identifier: CA385810682
Gene: BBS10 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.76346339G>A , CM000674.2:g.76346339G>A GRCh38
NC_000012.11:g.76740119G>A , CM000674.1:g.76740119G>A GRCh37
NC_000012.10:g.75264250G>A NCBI36
NG_016357.1:g.7104C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000650064.2:c.1646C>T MANE Select ENSP00000497413.1:p.Ser549Leu
ENST00000393262.3:c.1646C>T ENSP00000376946.3:p.Ser549Leu
NM_024685.3:c.1646C>T NP_078961.3:p.Ser549Leu
NM_024685.4:c.1646C>T MANE Select NP_078961.3:p.Ser549Leu