Canonical Allele Identifier: CA174316

Gene: SBNO1

Linked Data

• ClinVar Variation Id: 161548
• ClinVar RCV Id: RCV000149083
• dbSNP Id: rs193920847
• MyVariant Identifiers: chr12:g.123834853T>G (hg19) ; chr12:g.123350306T>G (hg38)
• PubMed: PMID:23265383

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.123350306T>G , CM000674.2:g.123350306T>G	GRCh38
NC_000012.11:g.123834853T>G , CM000674.1:g.123834853T>G	GRCh37
NC_000012.10:g.122400806T>G	NCBI36
NG_052874.1:g.19904A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000602398.3:c.132+4A>C MANE Select	ENSP00000473665.1:n.132+4A>C
ENST00000267176.8:c.132+4A>C	ENSP00000267176.4:n.132+4A>C
ENST00000420886.6:c.132+4A>C	ENSP00000387361.2:n.132+4A>C
ENST00000602398.2:c.132+4A>C	ENSP00000473665.1:n.132+4A>C
NM_001167856.1:c.132+4A>C	NP_001161328.1:n.132+4A>C
NM_018183.3:c.132+4A>C	NP_060653.3:n.132+4A>C
XM_005253572.2:c.132+4A>C	XP_005253629.1:n.132+4A>C
XM_005253573.3:c.132+4A>C	XP_005253630.1:n.132+4A>C
XM_005253575.2:c.132+4A>C	XP_005253632.1:n.132+4A>C
XM_005253576.2:c.132+4A>C	XP_005253633.1:n.132+4A>C
XM_006719473.2:c.132+4A>C	XP_006719536.1:n.132+4A>C
XM_006719474.2:c.132+4A>C	XP_006719537.1:n.132+4A>C
XM_011538533.1:c.132+4A>C	XP_011536835.1:n.132+4A>C
XM_011538534.1:c.132+4A>C	XP_011536836.1:n.132+4A>C
XM_011538535.1:c.132+4A>C	XP_011536837.1:n.132+4A>C
NM_001167856.2:c.132+4A>C	NP_001161328.1:n.132+4A>C
NM_018183.4:c.132+4A>C	NP_060653.3:n.132+4A>C
NM_001167856.3:c.132+4A>C MANE Select	NP_001161328.1:n.132+4A>C
NM_018183.5:c.132+4A>C	NP_060653.3:n.132+4A>C