Canonical Allele Identifier: CA260178

Gene: BBS10

Linked Data

• ClinVar Variation Id: 35751
• ClinVar RCV Id: RCV000029402 ; RCV000246690 ; RCV000675134 ; RCV001753428
• dbSNP Id: rs141521925
• ExAC: 12:76740029 T / C
• gnomAD v2: 12-76740029-T-C
• gnomAD v3: 12-76346249-T-C
• gnomAD v4: 12-76346249-T-C
• MyVariant Identifiers: chr12:g.76740029T>C (hg19) ; chr12:g.76346249T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.76346249T>C , CM000674.2:g.76346249T>C	GRCh38
NC_000012.11:g.76740029T>C , CM000674.1:g.76740029T>C	GRCh37
NC_000012.10:g.75264160T>C	NCBI36
NG_016357.1:g.7194A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000650064.2:c.1736A>G MANE Select	ENSP00000497413.1:p.Lys579Arg
ENST00000393262.3:c.1736A>G	ENSP00000376946.3:p.Lys579Arg
NM_024685.3:c.1736A>G	NP_078961.3:p.Lys579Arg
NM_024685.4:c.1736A>G MANE Select	NP_078961.3:p.Lys579Arg