Canonical Allele Identifier: CA385808338

Gene: BBS10

Linked Data

• COSMIC: COSM6256153
• MyVariant Identifiers: chr12:g.76739678G>T (hg19) ; chr12:g.76345898G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.76345898G>T , CM000674.2:g.76345898G>T	GRCh38
NC_000012.11:g.76739678G>T , CM000674.1:g.76739678G>T	GRCh37
NC_000012.10:g.75263809G>T	NCBI36
NG_016357.1:g.7545C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000650064.2:c.2087C>A MANE Select	ENSP00000497413.1:p.Thr696Lys
ENST00000393262.3:c.2087C>A	ENSP00000376946.3:p.Thr696Lys
NM_024685.3:c.2087C>A	NP_078961.3:p.Thr696Lys
NM_024685.4:c.2087C>A MANE Select	NP_078961.3:p.Thr696Lys