Canonical Allele Identifier: CA348258

Gene: BBS12

Linked Data

• ClinVar Variation Id: 220303
• ClinVar RCV Id: RCV000203973 ; RCV000499807 ; RCV000668722
• dbSNP Id: rs776730549
• ExAC: 4:123664621 G / A
• gnomAD v2: 4-123664621-G-A
• gnomAD v4: 4-122743466-G-A
• COSMIC: COSM586019
• MyVariant Identifiers: chr4:g.123664621G>A (hg19) ; chr4:g.122743466G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.122743466G>A , CM000666.2:g.122743466G>A	GRCh38
NC_000004.11:g.123664621G>A , CM000666.1:g.123664621G>A	GRCh37
NC_000004.10:g.123884071G>A	NCBI36
NG_021203.1:g.15765G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000314218.8:c.1574G>A MANE Select	ENSP00000319062.3:p.Arg525His
ENST00000314218.7:c.1574G>A	ENSP00000319062.3:p.Arg525His
ENST00000542236.5:c.1574G>A	ENSP00000438273.1:p.Arg525His
NM_001178007.1:c.1574G>A	NP_001171478.1:p.Arg525His
NM_152618.2:c.1574G>A	NP_689831.2:p.Arg525His
XM_011531680.1:c.1574G>A	XP_011529982.1:p.Arg525His
XM_011531680.2:c.1574G>A	XP_011529982.1:p.Arg525His
XM_017007831.1:c.1574G>A	XP_016863320.1:p.Arg525His
NM_152618.3:c.1574G>A MANE Select	NP_689831.2:p.Arg525His
NM_001178007.2:c.1574G>A	NP_001171478.1:p.Arg525His