Canonical Allele Identifier: CA338134

Gene: BBS12

Linked Data

• ClinVar Variation Id: 215969
• ClinVar RCV Id: RCV000198717 ; RCV000393607 ; RCV001144903 ; RCV001657986
• dbSNP Id: rs143960329
• ExAC: 4:123663259 A / G
• gnomAD v2: 4-123663259-A-G
• gnomAD v3: 4-122742104-A-G
• gnomAD v4: 4-122742104-A-G
• MyVariant Identifiers: chr4:g.123663259A>G (hg19) ; chr4:g.122742104A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.122742104A>G , CM000666.2:g.122742104A>G	GRCh38
NC_000004.11:g.123663259A>G , CM000666.1:g.123663259A>G	GRCh37
NC_000004.10:g.123882709A>G	NCBI36
NG_021203.1:g.14403A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000314218.8:c.212A>G MANE Select	ENSP00000319062.3:p.Asn71Ser
ENST00000314218.7:c.212A>G	ENSP00000319062.3:p.Asn71Ser
ENST00000433287.1:c.212A>G	ENSP00000398912.1:p.Asn71Ser
ENST00000542236.5:c.212A>G	ENSP00000438273.1:p.Asn71Ser
NM_001178007.1:c.212A>G	NP_001171478.1:p.Asn71Ser
NM_152618.2:c.212A>G	NP_689831.2:p.Asn71Ser
XM_011531680.1:c.212A>G	XP_011529982.1:p.Asn71Ser
XM_011531680.2:c.212A>G	XP_011529982.1:p.Asn71Ser
XM_017007831.1:c.212A>G	XP_016863320.1:p.Asn71Ser
NM_152618.3:c.212A>G MANE Select	NP_689831.2:p.Asn71Ser
NM_001178007.2:c.212A>G	NP_001171478.1:p.Asn71Ser