Canonical Allele Identifier: CA373129888

Gene: TEK

Linked Data

• dbSNP Id: rs1824475888
• MyVariant Identifiers: chr9:g.27183495G>C (hg19) ; chr9:g.27183497G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.27183497G>C , CM000671.2:g.27183497G>C	GRCh38
NC_000009.11:g.27183495G>C , CM000671.1:g.27183495G>C	GRCh37
NC_000009.10:g.27173495G>C	NCBI36
NG_011828.1:g.79349G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000380036.10:c.1069G>C MANE Select	ENSP00000369375.4:p.Asp357His
ENST00000380036.8:c.1069G>C	ENSP00000369375.4:p.Asp357His
ENST00000406359.8:c.940G>C	ENSP00000383977.4:p.Asp314His
ENST00000519080.1:c.499G>C	ENSP00000428337.1:p.Asp167His
ENST00000519097.5:c.628G>C	ENSP00000430686.1:p.Asp210His
ENST00000615002.4:c.940G>C	ENSP00000480251.1:p.Asp314His
NM_000459.4:c.1069G>C	NP_000450.2:p.Asp357His
NM_001290077.1:c.940G>C	NP_001277006.1:p.Asp314His
NM_001290078.1:c.628G>C	NP_001277007.1:p.Asp210His
XM_005251561.1:c.1069G>C	XP_005251618.1:p.Asp357His
XM_005251563.1:c.940G>C	XP_005251620.1:p.Asp314His
XM_005251561.2:c.1069G>C	XP_005251618.1:p.Asp357His
XM_005251563.2:c.940G>C	XP_005251620.1:p.Asp314His
NM_000459.5:c.1069G>C MANE Select	NP_000450.3:p.Asp357His
NM_001375475.1:c.1069G>C	NP_001362404.1:p.Asp357His
NM_001375476.1:c.940G>C	NP_001362405.1:p.Asp314His