Canonical Allele Identifier: CA3069356

Gene: BBS12

Linked Data

• dbSNP Id: rs772171337
• ExAC: 4:123664024 C / T
• gnomAD v2: 4-123664024-C-T
• gnomAD v4: 4-122742869-C-T
• MyVariant Identifiers: chr4:g.123664024C>T (hg19) ; chr4:g.122742869C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.122742869C>T , CM000666.2:g.122742869C>T	GRCh38
NC_000004.11:g.123664024C>T , CM000666.1:g.123664024C>T	GRCh37
NC_000004.10:g.123883474C>T	NCBI36
NG_021203.1:g.15168C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000314218.8:c.977C>T MANE Select	ENSP00000319062.3:p.Thr326Ile
ENST00000314218.7:c.977C>T	ENSP00000319062.3:p.Thr326Ile
ENST00000542236.5:c.977C>T	ENSP00000438273.1:p.Thr326Ile
NM_001178007.1:c.977C>T	NP_001171478.1:p.Thr326Ile
NM_152618.2:c.977C>T	NP_689831.2:p.Thr326Ile
XM_011531680.1:c.977C>T	XP_011529982.1:p.Thr326Ile
XM_011531680.2:c.977C>T	XP_011529982.1:p.Thr326Ile
XM_017007831.1:c.977C>T	XP_016863320.1:p.Thr326Ile
NM_152618.3:c.977C>T MANE Select	NP_689831.2:p.Thr326Ile
NM_001178007.2:c.977C>T	NP_001171478.1:p.Thr326Ile