Canonical Allele Identifier: CA105249193

Gene: BBS12

Linked Data

• ClinVar Variation Id: 2152889
• ClinVar RCV Id: RCV003077330
• dbSNP Id: rs1029412033
• gnomAD v4: 4-122742937-T-C
• MyVariant Identifiers: chr4:g.123664092T>C (hg19) ; chr4:g.122742937T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.122742937T>C , CM000666.2:g.122742937T>C	GRCh38
NC_000004.11:g.123664092T>C , CM000666.1:g.123664092T>C	GRCh37
NC_000004.10:g.123883542T>C	NCBI36
NG_021203.1:g.15236T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000314218.8:c.1045T>C MANE Select	ENSP00000319062.3:p.Leu349=
ENST00000314218.7:c.1045T>C	ENSP00000319062.3:p.Leu349=
ENST00000542236.5:c.1045T>C	ENSP00000438273.1:p.Leu349=
NM_001178007.1:c.1045T>C	NP_001171478.1:p.Leu349=
NM_152618.2:c.1045T>C	NP_689831.2:p.Leu349=
XM_011531680.1:c.1045T>C	XP_011529982.1:p.Leu349=
XM_011531680.2:c.1045T>C	XP_011529982.1:p.Leu349=
XM_017007831.1:c.1045T>C	XP_016863320.1:p.Leu349=
NM_152618.3:c.1045T>C MANE Select	NP_689831.2:p.Leu349=
NM_001178007.2:c.1045T>C	NP_001171478.1:p.Leu349=