Canonical Allele Identifier: CA862764231

Gene: TEK

Linked Data

• dbSNP Id: rs1172273592
• gnomAD v3: 9-27212681-G-A
• gnomAD v4: 9-27212681-G-A
• MyVariant Identifiers: chr9:g.27212679G>A (hg19) ; chr9:g.27212681G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.27212681G>A , CM000671.2:g.27212681G>A	GRCh38
NC_000009.11:g.27212679G>A , CM000671.1:g.27212679G>A	GRCh37
NC_000009.10:g.27202679G>A	NCBI36
NG_011828.1:g.108533G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000380036.10:c.2687-26G>A MANE Select	ENSP00000369375.4:n.2687-26G>A
ENST00000380036.8:c.2687-26G>A	ENSP00000369375.4:n.2687-26G>A
ENST00000406359.8:c.2558-26G>A	ENSP00000383977.4:n.2558-26G>A
ENST00000519097.5:c.2243-26G>A	ENSP00000430686.1:n.2243-26G>A
ENST00000615002.4:c.*1188-26G>A	ENSP00000480251.1:n.*1188-26G>A
NM_000459.4:c.2687-26G>A	NP_000450.2:n.2687-26G>A
NM_001290077.1:c.2558-26G>A	NP_001277006.1:n.2558-26G>A
NM_001290078.1:c.2243-26G>A	NP_001277007.1:n.2243-26G>A
XM_005251561.1:c.2684-26G>A	XP_005251618.1:n.2684-26G>A
XM_005251563.1:c.2555-26G>A	XP_005251620.1:n.2555-26G>A
XM_005251561.2:c.2684-26G>A	XP_005251618.1:n.2684-26G>A
XM_005251563.2:c.2555-26G>A	XP_005251620.1:n.2555-26G>A
NM_000459.5:c.2687-26G>A MANE Select	NP_000450.3:n.2687-26G>A
NM_001375475.1:c.2684-26G>A	NP_001362404.1:n.2684-26G>A
NM_001375476.1:c.2555-26G>A	NP_001362405.1:n.2555-26G>A