Canonical Allele Identifier: CA373129791

Gene: TEK

Linked Data

• dbSNP Id: rs1478357889
• gnomAD v2: 9-27183472-C-G
• gnomAD v4: 9-27183474-C-G
• MyVariant Identifiers: chr9:g.27183472C>G (hg19) ; chr9:g.27183474C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.27183474C>G , CM000671.2:g.27183474C>G	GRCh38
NC_000009.11:g.27183472C>G , CM000671.1:g.27183472C>G	GRCh37
NC_000009.10:g.27173472C>G	NCBI36
NG_011828.1:g.79326C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000380036.10:c.1046C>G MANE Select	ENSP00000369375.4:p.Thr349Ser
ENST00000380036.8:c.1046C>G	ENSP00000369375.4:p.Thr349Ser
ENST00000406359.8:c.917C>G	ENSP00000383977.4:p.Thr306Ser
ENST00000519080.1:c.476C>G	ENSP00000428337.1:p.Thr159Ser
ENST00000519097.5:c.605C>G	ENSP00000430686.1:p.Thr202Ser
ENST00000615002.4:c.917C>G	ENSP00000480251.1:p.Thr306Ser
NM_000459.4:c.1046C>G	NP_000450.2:p.Thr349Ser
NM_001290077.1:c.917C>G	NP_001277006.1:p.Thr306Ser
NM_001290078.1:c.605C>G	NP_001277007.1:p.Thr202Ser
XM_005251561.1:c.1046C>G	XP_005251618.1:p.Thr349Ser
XM_005251563.1:c.917C>G	XP_005251620.1:p.Thr306Ser
XM_005251561.2:c.1046C>G	XP_005251618.1:p.Thr349Ser
XM_005251563.2:c.917C>G	XP_005251620.1:p.Thr306Ser
NM_000459.5:c.1046C>G MANE Select	NP_000450.3:p.Thr349Ser
NM_001375475.1:c.1046C>G	NP_001362404.1:p.Thr349Ser
NM_001375476.1:c.917C>G	NP_001362405.1:p.Thr306Ser