Canonical Allele Identifier: CA6694099

Gene: BBS10

Linked Data

• dbSNP Id: rs376793096
• ExAC: 12:76739938 C / A
• gnomAD v2: 12-76739938-C-A
• gnomAD v3: 12-76346158-C-A
• gnomAD v4: 12-76346158-C-A
• MyVariant Identifiers: chr12:g.76739938C>A (hg19) ; chr12:g.76346158C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.76346158C>A , CM000674.2:g.76346158C>A	GRCh38
NC_000012.11:g.76739938C>A , CM000674.1:g.76739938C>A	GRCh37
NC_000012.10:g.75264069C>A	NCBI36
NG_016357.1:g.7285G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000650064.2:c.1827G>T MANE Select	ENSP00000497413.1:p.Leu609Phe
ENST00000393262.3:c.1827G>T	ENSP00000376946.3:p.Leu609Phe
NM_024685.3:c.1827G>T	NP_078961.3:p.Leu609Phe
NM_024685.4:c.1827G>T MANE Select	NP_078961.3:p.Leu609Phe