Canonical Allele Identifier: CA373125568

Gene: TEK

Linked Data

• gnomAD v4: 9-27173297-T-A
• MyVariant Identifiers: chr9:g.27173295T>A (hg19) ; chr9:g.27173297T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.27173297T>A , CM000671.2:g.27173297T>A	GRCh38
NC_000009.11:g.27173295T>A , CM000671.1:g.27173295T>A	GRCh37
NC_000009.10:g.27163295T>A	NCBI36
NG_011828.1:g.69149T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000380036.10:c.836T>A MANE Select	ENSP00000369375.4:p.Phe279Tyr
ENST00000380036.8:c.836T>A	ENSP00000369375.4:p.Phe279Tyr
ENST00000406359.8:c.836T>A	ENSP00000383977.4:p.Phe279Tyr
ENST00000519080.1:c.395T>A	ENSP00000428337.1:p.Phe132Tyr
ENST00000519097.5:c.524T>A	ENSP00000430686.1:p.Phe175Tyr
ENST00000615002.4:c.836T>A	ENSP00000480251.1:p.Phe279Tyr
NM_000459.4:c.836T>A	NP_000450.2:p.Phe279Tyr
NM_001290077.1:c.836T>A	NP_001277006.1:p.Phe279Tyr
NM_001290078.1:c.524T>A	NP_001277007.1:p.Phe175Tyr
XM_005251561.1:c.836T>A	XP_005251618.1:p.Phe279Tyr
XM_005251563.1:c.836T>A	XP_005251620.1:p.Phe279Tyr
XM_005251561.2:c.836T>A	XP_005251618.1:p.Phe279Tyr
XM_005251563.2:c.836T>A	XP_005251620.1:p.Phe279Tyr
NM_000459.5:c.836T>A MANE Select	NP_000450.3:p.Phe279Tyr
NM_001375475.1:c.836T>A	NP_001362404.1:p.Phe279Tyr
NM_001375476.1:c.836T>A	NP_001362405.1:p.Phe279Tyr