Canonical Allele Identifier: CA3069524

Gene: BBS12

Linked Data

• ClinVar Variation Id: 434490
• ClinVar RCV Id: RCV000499698 ; RCV000625333 ; RCV000709681 ; RCV001145003 ; RCV001584212 ; RCV003424055
• dbSNP Id: rs139278612
• ExAC: 4:123664906 A / G
• gnomAD v2: 4-123664906-A-G
• gnomAD v3: 4-122743751-A-G
• gnomAD v4: 4-122743751-A-G
• MyVariant Identifiers: chr4:g.123664906A>G (hg19) ; chr4:g.122743751A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.122743751A>G , CM000666.2:g.122743751A>G	GRCh38
NC_000004.11:g.123664906A>G , CM000666.1:g.123664906A>G	GRCh37
NC_000004.10:g.123884356A>G	NCBI36
NG_021203.1:g.16050A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000314218.8:c.1859A>G MANE Select	ENSP00000319062.3:p.Gln620Arg
ENST00000314218.7:c.1859A>G	ENSP00000319062.3:p.Gln620Arg
ENST00000542236.5:c.1859A>G	ENSP00000438273.1:p.Gln620Arg
NM_001178007.1:c.1859A>G	NP_001171478.1:p.Gln620Arg
NM_152618.2:c.1859A>G	NP_689831.2:p.Gln620Arg
XM_011531680.1:c.1859A>G	XP_011529982.1:p.Gln620Arg
XM_011531680.2:c.1859A>G	XP_011529982.1:p.Gln620Arg
XM_017007831.1:c.1859A>G	XP_016863320.1:p.Gln620Arg
NM_152618.3:c.1859A>G MANE Select	NP_689831.2:p.Gln620Arg
NM_001178007.2:c.1859A>G	NP_001171478.1:p.Gln620Arg