Canonical Allele Identifier: CA5016047

Gene: TEK

Linked Data

• dbSNP Id: rs189522899
• ExAC: 9:27173387 G / A
• gnomAD v2: 9-27173387-G-A
• gnomAD v3: 9-27173389-G-A
• gnomAD v4: 9-27173389-G-A
• MyVariant Identifiers: chr9:g.27173387G>A (hg19) ; chr9:g.27173389G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.27173389G>A , CM000671.2:g.27173389G>A	GRCh38
NC_000009.11:g.27173387G>A , CM000671.1:g.27173387G>A	GRCh37
NC_000009.10:g.27163387G>A	NCBI36
NG_011828.1:g.69241G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000380036.10:c.901+27G>A MANE Select	ENSP00000369375.4:n.901+27G>A
ENST00000380036.8:c.901+27G>A	ENSP00000369375.4:n.901+27G>A
ENST00000406359.8:c.901+27G>A	ENSP00000383977.4:n.901+27G>A
ENST00000519080.1:c.460+27G>A	ENSP00000428337.1:n.460+27G>A
ENST00000519097.5:c.589+27G>A	ENSP00000430686.1:n.589+27G>A
ENST00000615002.4:c.901+27G>A	ENSP00000480251.1:n.901+27G>A
NM_000459.4:c.901+27G>A	NP_000450.2:n.901+27G>A
NM_001290077.1:c.901+27G>A	NP_001277006.1:n.901+27G>A
NM_001290078.1:c.589+27G>A	NP_001277007.1:n.589+27G>A
XM_005251561.1:c.901+27G>A	XP_005251618.1:n.901+27G>A
XM_005251563.1:c.901+27G>A	XP_005251620.1:n.901+27G>A
XM_005251561.2:c.901+27G>A	XP_005251618.1:n.901+27G>A
XM_005251563.2:c.901+27G>A	XP_005251620.1:n.901+27G>A
NM_000459.5:c.901+27G>A MANE Select	NP_000450.3:n.901+27G>A
NM_001375475.1:c.901+27G>A	NP_001362404.1:n.901+27G>A
NM_001375476.1:c.901+27G>A	NP_001362405.1:n.901+27G>A