Canonical Allele Identifier: CA385813901

Gene: BBS10

Linked Data

• COSMIC: COSM3792972
• MyVariant Identifiers: chr12:g.76740913C>G (hg19) ; chr12:g.76347133C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.76347133C>G , CM000674.2:g.76347133C>G	GRCh38
NC_000012.11:g.76740913C>G , CM000674.1:g.76740913C>G	GRCh37
NC_000012.10:g.75265044C>G	NCBI36
NG_016357.1:g.6310G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000650064.2:c.852G>C MANE Select	ENSP00000497413.1:p.Gln284His
ENST00000393262.3:c.852G>C	ENSP00000376946.3:p.Gln284His
NM_024685.3:c.852G>C	NP_078961.3:p.Gln284His
NM_024685.4:c.852G>C MANE Select	NP_078961.3:p.Gln284His