Canonical Allele Identifier: CA6694190

Gene: BBS10

Linked Data

• ClinVar Variation Id: 531826
• ClinVar RCV Id: RCV000638359 ; RCV001115136 ; RCV003945609
• dbSNP Id: rs199878555
• ExAC: 12:76740432 G / T
• gnomAD v2: 12-76740432-G-T
• gnomAD v3: 12-76346652-G-T
• gnomAD v4: 12-76346652-G-T
• MyVariant Identifiers: chr12:g.76740432G>T (hg19) ; chr12:g.76346652G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.76346652G>T , CM000674.2:g.76346652G>T	GRCh38
NC_000012.11:g.76740432G>T , CM000674.1:g.76740432G>T	GRCh37
NC_000012.10:g.75264563G>T	NCBI36
NG_016357.1:g.6791C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000650064.2:c.1333C>A MANE Select	ENSP00000497413.1:p.Leu445Ile
ENST00000393262.3:c.1333C>A	ENSP00000376946.3:p.Leu445Ile
NM_024685.3:c.1333C>A	NP_078961.3:p.Leu445Ile
NM_024685.4:c.1333C>A MANE Select	NP_078961.3:p.Leu445Ile