Canonical Allele Identifier: CA5016033

Gene: TEK

Linked Data

• dbSNP Id: rs778613365
• ExAC: 9:27173315 G / A
• gnomAD v2: 9-27173315-G-A
• gnomAD v4: 9-27173317-G-A
• MyVariant Identifiers: chr9:g.27173315G>A (hg19) ; chr9:g.27173317G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.27173317G>A , CM000671.2:g.27173317G>A	GRCh38
NC_000009.11:g.27173315G>A , CM000671.1:g.27173315G>A	GRCh37
NC_000009.10:g.27163315G>A	NCBI36
NG_011828.1:g.69169G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000380036.10:c.856G>A MANE Select	ENSP00000369375.4:p.Gly286Arg
ENST00000380036.8:c.856G>A	ENSP00000369375.4:p.Gly286Arg
ENST00000406359.8:c.856G>A	ENSP00000383977.4:p.Gly286Arg
ENST00000519080.1:c.415G>A	ENSP00000428337.1:p.Gly139Arg
ENST00000519097.5:c.544G>A	ENSP00000430686.1:p.Gly182Arg
ENST00000615002.4:c.856G>A	ENSP00000480251.1:p.Gly286Arg
NM_000459.4:c.856G>A	NP_000450.2:p.Gly286Arg
NM_001290077.1:c.856G>A	NP_001277006.1:p.Gly286Arg
NM_001290078.1:c.544G>A	NP_001277007.1:p.Gly182Arg
XM_005251561.1:c.856G>A	XP_005251618.1:p.Gly286Arg
XM_005251563.1:c.856G>A	XP_005251620.1:p.Gly286Arg
XM_005251561.2:c.856G>A	XP_005251618.1:p.Gly286Arg
XM_005251563.2:c.856G>A	XP_005251620.1:p.Gly286Arg
NM_000459.5:c.856G>A MANE Select	NP_000450.3:p.Gly286Arg
NM_001375475.1:c.856G>A	NP_001362404.1:p.Gly286Arg
NM_001375476.1:c.856G>A	NP_001362405.1:p.Gly286Arg