Canonical Allele Identifier: CA5016417

Gene: TEK

Linked Data

• ClinVar Variation Id: 518397
• ClinVar RCV Id: RCV000604065 ; RCV001675941 ; RCV001700257 ; RCV001838637
• dbSNP Id: rs638203
• ExAC: 9:27203134 A / G
• gnomAD v2: 9-27203134-A-G
• gnomAD v3: 9-27203136-A-G
• gnomAD v4: 9-27203136-A-G
• MyVariant Identifiers: chr9:g.27203134A>G (hg19) ; chr9:g.27203136A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.27203136A>G , CM000671.2:g.27203136A>G	GRCh38
NC_000009.11:g.27203134A>G , CM000671.1:g.27203134A>G	GRCh37
NC_000009.10:g.27193134A>G	NCBI36
NG_011828.1:g.98988A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000380036.10:c.2209+17A>G MANE Select	ENSP00000369375.4:n.2209+17A>G
ENST00000380036.8:c.2209+17A>G	ENSP00000369375.4:n.2209+17A>G
ENST00000406359.8:c.2080+17A>G	ENSP00000383977.4:n.2080+17A>G
ENST00000519097.5:c.1768+17A>G	ENSP00000430686.1:n.1768+17A>G
ENST00000615002.4:c.*710+17A>G	ENSP00000480251.1:n.*710+17A>G
NM_000459.4:c.2209+17A>G	NP_000450.2:n.2209+17A>G
NM_001290077.1:c.2080+17A>G	NP_001277006.1:n.2080+17A>G
NM_001290078.1:c.1768+17A>G	NP_001277007.1:n.1768+17A>G
XM_005251561.1:c.2209+17A>G	XP_005251618.1:n.2209+17A>G
XM_005251563.1:c.2080+17A>G	XP_005251620.1:n.2080+17A>G
XM_005251561.2:c.2209+17A>G	XP_005251618.1:n.2209+17A>G
XM_005251563.2:c.2080+17A>G	XP_005251620.1:n.2080+17A>G
NM_000459.5:c.2209+17A>G MANE Select	NP_000450.3:n.2209+17A>G
NM_001375475.1:c.2209+17A>G	NP_001362404.1:n.2209+17A>G
NM_001375476.1:c.2080+17A>G	NP_001362405.1:n.2080+17A>G