Canonical Allele Identifier: CA373123096

Gene: TEK

Linked Data

• dbSNP Id: rs1758898621
• gnomAD v3: 9-27212783-G-C
• gnomAD v4: 9-27212783-G-C
• MyVariant Identifiers: chr9:g.27212781G>C (hg19) ; chr9:g.27212783G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.27212783G>C , CM000671.2:g.27212783G>C	GRCh38
NC_000009.11:g.27212781G>C , CM000671.1:g.27212781G>C	GRCh37
NC_000009.10:g.27202781G>C	NCBI36
NG_011828.1:g.108635G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000380036.10:c.2763G>C MANE Select	ENSP00000369375.4:p.Glu921Asp
ENST00000380036.8:c.2763G>C	ENSP00000369375.4:p.Glu921Asp
ENST00000406359.8:c.2634G>C	ENSP00000383977.4:p.Glu878Asp
ENST00000519097.5:c.2319G>C	ENSP00000430686.1:p.Glu773Asp
ENST00000615002.4:c.*1264G>C	ENSP00000480251.1:n.*1264G>C
NM_000459.4:c.2763G>C	NP_000450.2:p.Glu921Asp
NM_001290077.1:c.2634G>C	NP_001277006.1:p.Glu878Asp
NM_001290078.1:c.2319G>C	NP_001277007.1:p.Glu773Asp
XM_005251561.1:c.2760G>C	XP_005251618.1:p.Glu920Asp
XM_005251563.1:c.2631G>C	XP_005251620.1:p.Glu877Asp
XM_005251561.2:c.2760G>C	XP_005251618.1:p.Glu920Asp
XM_005251563.2:c.2631G>C	XP_005251620.1:p.Glu877Asp
NM_000459.5:c.2763G>C MANE Select	NP_000450.3:p.Glu921Asp
NM_001375475.1:c.2760G>C	NP_001362404.1:p.Glu920Asp
NM_001375476.1:c.2631G>C	NP_001362405.1:p.Glu877Asp