Canonical Allele Identifier: CA241840

Gene: BBS12

Linked Data

• ClinVar Variation Id: 195412
• ClinVar RCV Id: RCV000175979 ; RCV002516696 ; RCV003907579
• dbSNP Id: rs116805550
• ExAC: 4:123664026 T / A
• gnomAD v2: 4-123664026-T-A
• gnomAD v3: 4-122742871-T-A
• gnomAD v4: 4-122742871-T-A
• MyVariant Identifiers: chr4:g.123664026T>A (hg19) ; chr4:g.122742871T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.122742871T>A , CM000666.2:g.122742871T>A	GRCh38
NC_000004.11:g.123664026T>A , CM000666.1:g.123664026T>A	GRCh37
NC_000004.10:g.123883476T>A	NCBI36
NG_021203.1:g.15170T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000314218.8:c.979T>A MANE Select	ENSP00000319062.3:p.Ser327Thr
ENST00000314218.7:c.979T>A	ENSP00000319062.3:p.Ser327Thr
ENST00000542236.5:c.979T>A	ENSP00000438273.1:p.Ser327Thr
NM_001178007.1:c.979T>A	NP_001171478.1:p.Ser327Thr
NM_152618.2:c.979T>A	NP_689831.2:p.Ser327Thr
XM_011531680.1:c.979T>A	XP_011529982.1:p.Ser327Thr
XM_011531680.2:c.979T>A	XP_011529982.1:p.Ser327Thr
XM_017007831.1:c.979T>A	XP_016863320.1:p.Ser327Thr
NM_152618.3:c.979T>A MANE Select	NP_689831.2:p.Ser327Thr
NM_001178007.2:c.979T>A	NP_001171478.1:p.Ser327Thr