Canonical Allele Identifier: CA358224346

Gene: BBS12

Linked Data

• dbSNP Id: rs1365275722
• gnomAD v2: 4-123664125-G-T
• gnomAD v4: 4-122742970-G-T
• MyVariant Identifiers: chr4:g.123664125G>T (hg19) ; chr4:g.122742970G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.122742970G>T , CM000666.2:g.122742970G>T	GRCh38
NC_000004.11:g.123664125G>T , CM000666.1:g.123664125G>T	GRCh37
NC_000004.10:g.123883575G>T	NCBI36
NG_021203.1:g.15269G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000314218.8:c.1078G>T MANE Select	ENSP00000319062.3:p.Glu360Ter
ENST00000314218.7:c.1078G>T	ENSP00000319062.3:p.Glu360Ter
ENST00000542236.5:c.1078G>T	ENSP00000438273.1:p.Glu360Ter
NM_001178007.1:c.1078G>T	NP_001171478.1:p.Glu360Ter
NM_152618.2:c.1078G>T	NP_689831.2:p.Glu360Ter
XM_011531680.1:c.1078G>T	XP_011529982.1:p.Glu360Ter
XM_011531680.2:c.1078G>T	XP_011529982.1:p.Glu360Ter
XM_017007831.1:c.1078G>T	XP_016863320.1:p.Glu360Ter
NM_152618.3:c.1078G>T MANE Select	NP_689831.2:p.Glu360Ter
NM_001178007.2:c.1078G>T	NP_001171478.1:p.Glu360Ter