Canonical Allele Identifier: CA6694134

Gene: BBS10

Linked Data

• ClinVar Variation Id: 696368
• ClinVar RCV Id: RCV001443437 ; RCV001816949 ; RCV001825716 ; RCV003955590
• dbSNP Id: rs145124702
• ExAC: 12:76740136 G / A
• gnomAD v2: 12-76740136-G-A
• gnomAD v3: 12-76346356-G-A
• gnomAD v4: 12-76346356-G-A
• MyVariant Identifiers: chr12:g.76740136G>A (hg19) ; chr12:g.76346356G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.76346356G>A , CM000674.2:g.76346356G>A	GRCh38
NC_000012.11:g.76740136G>A , CM000674.1:g.76740136G>A	GRCh37
NC_000012.10:g.75264267G>A	NCBI36
NG_016357.1:g.7087C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000650064.2:c.1629C>T MANE Select	ENSP00000497413.1:p.Asn543=
ENST00000393262.3:c.1629C>T	ENSP00000376946.3:p.Asn543=
NM_024685.3:c.1629C>T	NP_078961.3:p.Asn543=
NM_024685.4:c.1629C>T MANE Select	NP_078961.3:p.Asn543=