Canonical Allele Identifier: CA2689643878
Gene: TEK HGNC NCBI

Linked Data

gnomAD v4: 9-27212673-A-T

Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.27212673A>T , CM000671.2:g.27212673A>T GRCh38
NC_000009.11:g.27212671A>T , CM000671.1:g.27212671A>T GRCh37
NC_000009.10:g.27202671A>T NCBI36
NG_011828.1:g.108525A>T

Transcript Alleles

HGVS Amino-acid change
ENST00000380036.10:c.2687-34A>T MANE Select ENSP00000369375.4:n.2687-34A>T
ENST00000380036.8:c.2687-34A>T ENSP00000369375.4:n.2687-34A>T
ENST00000406359.8:c.2558-34A>T ENSP00000383977.4:n.2558-34A>T
ENST00000519097.5:c.2243-34A>T ENSP00000430686.1:n.2243-34A>T
ENST00000615002.4:c.*1188-34A>T ENSP00000480251.1:n.*1188-34A>T
NM_000459.4:c.2687-34A>T NP_000450.2:n.2687-34A>T
NM_001290077.1:c.2558-34A>T NP_001277006.1:n.2558-34A>T
NM_001290078.1:c.2243-34A>T NP_001277007.1:n.2243-34A>T
XM_005251561.1:c.2684-34A>T XP_005251618.1:n.2684-34A>T
XM_005251563.1:c.2555-34A>T XP_005251620.1:n.2555-34A>T
XM_005251561.2:c.2684-34A>T XP_005251618.1:n.2684-34A>T
XM_005251563.2:c.2555-34A>T XP_005251620.1:n.2555-34A>T
NM_000459.5:c.2687-34A>T MANE Select NP_000450.3:n.2687-34A>T
NM_001375475.1:c.2684-34A>T NP_001362404.1:n.2684-34A>T
NM_001375476.1:c.2555-34A>T NP_001362405.1:n.2555-34A>T