Canonical Allele Identifier: CA481011351
Gene: BBS10 HGNC NCBI

Linked Data

MyVariant Identifiers: chr12:g.76740679T>G (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.76346899T>G , CM000674.2:g.76346899T>G GRCh38
NC_000012.11:g.76740679T>G , CM000674.1:g.76740679T>G GRCh37
NC_000012.10:g.75264810T>G NCBI36
NG_016357.1:g.6544A>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000650064.2:c.1086A>C MANE Select ENSP00000497413.1:p.Ile362=
ENST00000393262.3:c.1086A>C ENSP00000376946.3:p.Ile362=
NM_024685.3:c.1086A>C NP_078961.3:p.Ile362=
NM_024685.4:c.1086A>C MANE Select NP_078961.3:p.Ile362=