Canonical Allele Identifier: CA373129747

Gene: TEK

Linked Data

• dbSNP Id: rs682632
• gnomAD v4: 9-27183465-A-G
• MyVariant Identifiers: chr9:g.27183463A>G (hg19) ; chr9:g.27183465A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.27183465A>G , CM000671.2:g.27183465A>G	GRCh38
NC_000009.11:g.27183463A>G , CM000671.1:g.27183463A>G	GRCh37
NC_000009.10:g.27173463A>G	NCBI36

Transcript Alleles

HGVS	Amino-acid change
ENST00000380036.10:c.1037A>G MANE Select	ENSP00000369375.4:p.Gln346Arg
ENST00000380036.8:c.1037A>G	ENSP00000369375.4:p.Gln346Arg
ENST00000406359.8:c.908A>G	ENSP00000383977.4:p.Gln303Arg
ENST00000519080.1:c.467A>G	ENSP00000428337.1:p.Gln156Arg
ENST00000519097.5:c.596A>G	ENSP00000430686.1:p.Gln199Arg
ENST00000615002.4:c.908A>G	ENSP00000480251.1:p.Gln303Arg
XM_005251561.1:c.1037A>G	XP_005251618.1:p.Gln346Arg
XM_005251563.1:c.908A>G	XP_005251620.1:p.Gln303Arg
XM_005251561.2:c.1037A>G	XP_005251618.1:p.Gln346Arg
XM_005251563.2:c.908A>G	XP_005251620.1:p.Gln303Arg
NM_000459.5:c.1037A>G MANE Select	NP_000450.3:p.Gln346Arg
NM_001375475.1:c.1037A>G	NP_001362404.1:p.Gln346Arg
NM_001375476.1:c.908A>G	NP_001362405.1:p.Gln303Arg