Canonical Allele Identifier: CA191308693

Gene: TEK

Linked Data

• ClinVar Variation Id: 2389239
• ClinVar RCV Id: RCV002708964
• dbSNP Id: rs763860066
• gnomAD v2: 9-27212738-A-G
• gnomAD v3: 9-27212740-A-G
• gnomAD v4: 9-27212740-A-G
• MyVariant Identifiers: chr9:g.27212738A>G (hg19) ; chr9:g.27212740A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.27212740A>G , CM000671.2:g.27212740A>G	GRCh38
NC_000009.11:g.27212738A>G , CM000671.1:g.27212738A>G	GRCh37
NC_000009.10:g.27202738A>G	NCBI36
NG_011828.1:g.108592A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000380036.10:c.2720A>G MANE Select	ENSP00000369375.4:p.His907Arg
ENST00000380036.8:c.2720A>G	ENSP00000369375.4:p.His907Arg
ENST00000406359.8:c.2591A>G	ENSP00000383977.4:p.His864Arg
ENST00000519097.5:c.2276A>G	ENSP00000430686.1:p.His759Arg
ENST00000615002.4:c.*1221A>G	ENSP00000480251.1:n.*1221A>G
NM_000459.4:c.2720A>G	NP_000450.2:p.His907Arg
NM_001290077.1:c.2591A>G	NP_001277006.1:p.His864Arg
NM_001290078.1:c.2276A>G	NP_001277007.1:p.His759Arg
XM_005251561.1:c.2717A>G	XP_005251618.1:p.His906Arg
XM_005251563.1:c.2588A>G	XP_005251620.1:p.His863Arg
XM_005251561.2:c.2717A>G	XP_005251618.1:p.His906Arg
XM_005251563.2:c.2588A>G	XP_005251620.1:p.His863Arg
NM_000459.5:c.2720A>G MANE Select	NP_000450.3:p.His907Arg
NM_001375475.1:c.2717A>G	NP_001362404.1:p.His906Arg
NM_001375476.1:c.2588A>G	NP_001362405.1:p.His863Arg