Canonical Allele Identifier: CA481011358
Gene: BBS10 HGNC NCBI

Linked Data

MyVariant Identifiers: chr12:g.76740685A>G (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.76346905A>G , CM000674.2:g.76346905A>G GRCh38
NC_000012.11:g.76740685A>G , CM000674.1:g.76740685A>G GRCh37
NC_000012.10:g.75264816A>G NCBI36
NG_016357.1:g.6538T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000650064.2:c.1080T>C MANE Select ENSP00000497413.1:p.Cys360=
ENST00000393262.3:c.1080T>C ENSP00000376946.3:p.Cys360=
NM_024685.3:c.1080T>C NP_078961.3:p.Cys360=
NM_024685.4:c.1080T>C MANE Select NP_078961.3:p.Cys360=