Canonical Allele Identifier: CA338786

Gene: BBS12

Linked Data

• ClinVar Variation Id: 215543
• ClinVar RCV Id: RCV000199683 ; RCV001144904 ; RCV001818474 ; RCV003884395
• dbSNP Id: rs77731085
• ExAC: 4:123663402 G / A
• gnomAD v2: 4-123663402-G-A
• gnomAD v3: 4-122742247-G-A
• gnomAD v4: 4-122742247-G-A
• MyVariant Identifiers: chr4:g.123663402G>A (hg19) ; chr4:g.122742247G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.122742247G>A , CM000666.2:g.122742247G>A	GRCh38
NC_000004.11:g.123663402G>A , CM000666.1:g.123663402G>A	GRCh37
NC_000004.10:g.123882852G>A	NCBI36
NG_021203.1:g.14546G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000314218.8:c.355G>A MANE Select	ENSP00000319062.3:p.Gly119Ser
ENST00000314218.7:c.355G>A	ENSP00000319062.3:p.Gly119Ser
ENST00000433287.1:c.355G>A	ENSP00000398912.1:p.Gly119Ser
ENST00000542236.5:c.355G>A	ENSP00000438273.1:p.Gly119Ser
NM_001178007.1:c.355G>A	NP_001171478.1:p.Gly119Ser
NM_152618.2:c.355G>A	NP_689831.2:p.Gly119Ser
XM_011531680.1:c.355G>A	XP_011529982.1:p.Gly119Ser
XM_011531680.2:c.355G>A	XP_011529982.1:p.Gly119Ser
XM_017007831.1:c.355G>A	XP_016863320.1:p.Gly119Ser
NM_152618.3:c.355G>A MANE Select	NP_689831.2:p.Gly119Ser
NM_001178007.2:c.355G>A	NP_001171478.1:p.Gly119Ser