Canonical Allele Identifier: CA1842021927
Gene: TEK HGNC NCBI

Linked Data

dbSNP Id: rs1824039832
gnomAD v4: 9-27173416-A-C

Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.27173416A>C , CM000671.2:g.27173416A>C GRCh38
NC_000009.11:g.27173414A>C , CM000671.1:g.27173414A>C GRCh37
NC_000009.10:g.27163414A>C NCBI36
NG_011828.1:g.69268A>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000380036.10:c.901+54A>C MANE Select ENSP00000369375.4:n.901+54A>C
ENST00000380036.8:c.901+54A>C ENSP00000369375.4:n.901+54A>C
ENST00000406359.8:c.901+54A>C ENSP00000383977.4:n.901+54A>C
ENST00000519080.1:c.460+54A>C ENSP00000428337.1:n.460+54A>C
ENST00000519097.5:c.589+54A>C ENSP00000430686.1:n.589+54A>C
ENST00000615002.4:c.901+54A>C ENSP00000480251.1:n.901+54A>C
NM_000459.4:c.901+54A>C NP_000450.2:n.901+54A>C
NM_001290077.1:c.901+54A>C NP_001277006.1:n.901+54A>C
NM_001290078.1:c.589+54A>C NP_001277007.1:n.589+54A>C
XM_005251561.1:c.901+54A>C XP_005251618.1:n.901+54A>C
XM_005251563.1:c.901+54A>C XP_005251620.1:n.901+54A>C
XM_005251561.2:c.901+54A>C XP_005251618.1:n.901+54A>C
XM_005251563.2:c.901+54A>C XP_005251620.1:n.901+54A>C
NM_000459.5:c.901+54A>C MANE Select NP_000450.3:n.901+54A>C
NM_001375475.1:c.901+54A>C NP_001362404.1:n.901+54A>C
NM_001375476.1:c.901+54A>C NP_001362405.1:n.901+54A>C