Canonical Allele Identifier: CA6694065
Gene: BBS10 HGNC NCBI

Linked Data

ClinVar Variation Id: 704965
dbSNP Id: rs771355732

Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.76346010T>A , CM000674.2:g.76346010T>A GRCh38
NC_000012.11:g.76739790T>A , CM000674.1:g.76739790T>A GRCh37
NC_000012.10:g.75263921T>A NCBI36
NG_016357.1:g.7433A>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000650064.2:c.1975A>T MANE Select ENSP00000497413.1:p.Ile659Leu
ENST00000393262.3:c.1975A>T ENSP00000376946.3:p.Ile659Leu
NM_024685.3:c.1975A>T NP_078961.3:p.Ile659Leu
NM_024685.4:c.1975A>T MANE Select NP_078961.3:p.Ile659Leu