Canonical Allele Identifier: CA10617032

Gene: BBS12

Linked Data

• ClinVar Variation Id: 347502
• ClinVar RCV Id: RCV000669919 ; RCV001386881
• dbSNP Id: rs886059058
• gnomAD v4: 4-122743169-G-A
• MyVariant Identifiers: chr4:g.123664324G>A (hg19) ; chr4:g.122743169G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.122743169G>A , CM000666.2:g.122743169G>A	GRCh38
NC_000004.11:g.123664324G>A , CM000666.1:g.123664324G>A	GRCh37
NC_000004.10:g.123883774G>A	NCBI36
NG_021203.1:g.15468G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000314218.8:c.1277G>A MANE Select	ENSP00000319062.3:p.Cys426Tyr
ENST00000314218.7:c.1277G>A	ENSP00000319062.3:p.Cys426Tyr
ENST00000542236.5:c.1277G>A	ENSP00000438273.1:p.Cys426Tyr
NM_001178007.1:c.1277G>A	NP_001171478.1:p.Cys426Tyr
NM_152618.2:c.1277G>A	NP_689831.2:p.Cys426Tyr
XM_011531680.1:c.1277G>A	XP_011529982.1:p.Cys426Tyr
XM_011531680.2:c.1277G>A	XP_011529982.1:p.Cys426Tyr
XM_017007831.1:c.1277G>A	XP_016863320.1:p.Cys426Tyr
NM_152618.3:c.1277G>A MANE Select	NP_689831.2:p.Cys426Tyr
NM_001178007.2:c.1277G>A	NP_001171478.1:p.Cys426Tyr