Canonical Allele Identifier: CA385808976

Gene: BBS10

Linked Data

• dbSNP Id: rs1156812402
• gnomAD v3: 12-76346057-A-G
• gnomAD v4: 12-76346057-A-G
• MyVariant Identifiers: chr12:g.76739837A>G (hg19) ; chr12:g.76346057A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.76346057A>G , CM000674.2:g.76346057A>G	GRCh38
NC_000012.11:g.76739837A>G , CM000674.1:g.76739837A>G	GRCh37
NC_000012.10:g.75263968A>G	NCBI36
NG_016357.1:g.7386T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000650064.2:c.1928T>C MANE Select	ENSP00000497413.1:p.Val643Ala
ENST00000393262.3:c.1928T>C	ENSP00000376946.3:p.Val643Ala
NM_024685.3:c.1928T>C	NP_078961.3:p.Val643Ala
NM_024685.4:c.1928T>C MANE Select	NP_078961.3:p.Val643Ala