Canonical Allele Identifier: CA6694065

Gene: BBS10

Linked Data

• ClinVar Variation Id: 704965
• ClinVar RCV Id: RCV001111720 ; RCV000875201 ; RCV003948225
• dbSNP Id: rs771355732
• ExAC: 12:76739790 T / A
• gnomAD v2: 12-76739790-T-A
• gnomAD v3: 12-76346010-T-A
• gnomAD v4: 12-76346010-T-A
• MyVariant Identifiers: chr12:g.76739790T>A (hg19) ; chr12:g.76346010T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.76346010T>A , CM000674.2:g.76346010T>A	GRCh38
NC_000012.11:g.76739790T>A , CM000674.1:g.76739790T>A	GRCh37
NC_000012.10:g.75263921T>A	NCBI36
NG_016357.1:g.7433A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000650064.2:c.1975A>T MANE Select	ENSP00000497413.1:p.Ile659Leu
ENST00000393262.3:c.1975A>T	ENSP00000376946.3:p.Ile659Leu
NM_024685.3:c.1975A>T	NP_078961.3:p.Ile659Leu
NM_024685.4:c.1975A>T MANE Select	NP_078961.3:p.Ile659Leu