Canonical Allele Identifier: CA5016005

Gene: TEK

Linked Data

• dbSNP Id: rs201226160
• ExAC: 9:27172792 C / A
• gnomAD v2: 9-27172792-C-A
• gnomAD v4: 9-27172794-C-A
• MyVariant Identifiers: chr9:g.27172792C>A (hg19) ; chr9:g.27172794C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.27172794C>A , CM000671.2:g.27172794C>A	GRCh38
NC_000009.11:g.27172792C>A , CM000671.1:g.27172792C>A	GRCh37
NC_000009.10:g.27162792C>A	NCBI36
NG_011828.1:g.68646C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000380036.10:c.760+47C>A MANE Select	ENSP00000369375.4:n.760+47C>A
ENST00000380036.8:c.760+47C>A	ENSP00000369375.4:n.760+47C>A
ENST00000406359.8:c.760+47C>A	ENSP00000383977.4:n.760+47C>A
ENST00000519080.1:c.319+47C>A	ENSP00000428337.1:n.319+47C>A
ENST00000519097.5:c.448+47C>A	ENSP00000430686.1:n.448+47C>A
ENST00000615002.4:c.760+47C>A	ENSP00000480251.1:n.760+47C>A
NM_000459.4:c.760+47C>A	NP_000450.2:n.760+47C>A
NM_001290077.1:c.760+47C>A	NP_001277006.1:n.760+47C>A
NM_001290078.1:c.448+47C>A	NP_001277007.1:n.448+47C>A
XM_005251561.1:c.760+47C>A	XP_005251618.1:n.760+47C>A
XM_005251563.1:c.760+47C>A	XP_005251620.1:n.760+47C>A
XM_005251561.2:c.760+47C>A	XP_005251618.1:n.760+47C>A
XM_005251563.2:c.760+47C>A	XP_005251620.1:n.760+47C>A
NM_000459.5:c.760+47C>A MANE Select	NP_000450.3:n.760+47C>A
NM_001375475.1:c.760+47C>A	NP_001362404.1:n.760+47C>A
NM_001375476.1:c.760+47C>A	NP_001362405.1:n.760+47C>A