Canonical Allele Identifier: CA149562

Gene: BBS12

Linked Data

• ClinVar Variation Id: 96504
• ClinVar RCV Id: RCV000082656 ; RCV000513736 ; RCV000626298 ; RCV000709646 ; RCV001080843
• dbSNP Id: rs138036823
• ExAC: 4:123663163 T / C
• gnomAD v2: 4-123663163-T-C
• gnomAD v3: 4-122742008-T-C
• gnomAD v4: 4-122742008-T-C
• MyVariant Identifiers: chr4:g.123663163T>C (hg19) ; chr4:g.122742008T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.122742008T>C , CM000666.2:g.122742008T>C	GRCh38
NC_000004.11:g.123663163T>C , CM000666.1:g.123663163T>C	GRCh37
NC_000004.10:g.123882613T>C	NCBI36
NG_021203.1:g.14307T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000314218.8:c.116T>C MANE Select	ENSP00000319062.3:p.Ile39Thr
ENST00000314218.7:c.116T>C	ENSP00000319062.3:p.Ile39Thr
ENST00000433287.1:c.116T>C	ENSP00000398912.1:p.Ile39Thr
ENST00000542236.5:c.116T>C	ENSP00000438273.1:p.Ile39Thr
NM_001178007.1:c.116T>C	NP_001171478.1:p.Ile39Thr
NM_152618.2:c.116T>C	NP_689831.2:p.Ile39Thr
XM_011531680.1:c.116T>C	XP_011529982.1:p.Ile39Thr
XM_011531680.2:c.116T>C	XP_011529982.1:p.Ile39Thr
XM_017007831.1:c.116T>C	XP_016863320.1:p.Ile39Thr
NM_152618.3:c.116T>C MANE Select	NP_689831.2:p.Ile39Thr
NM_001178007.2:c.116T>C	NP_001171478.1:p.Ile39Thr