Canonical Allele Identifier: CA5016039
Gene: TEK HGNC NCBI

Identifiers and link-outs to other resources

dbSNP Id: rs146169480

Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.27173343G>C , CM000671.2:g.27173343G>C GRCh38
NC_000009.11:g.27173341G>C , CM000671.1:g.27173341G>C GRCh37
NC_000009.10:g.27163341G>C NCBI36
NG_011828.1:g.69195G>C

Transcript Alleles

HGVS Amino-acid change
NM_000459.4:c.882G>C VV NP_000450.2:p.Lys294Asn
NM_001290077.1:c.882G>C VV NP_001277006.1:p.Lys294Asn
NM_001290078.1:c.570G>C VV NP_001277007.1:p.Lys190Asn
XM_005251561.1:c.882G>C XP_005251618.1:p.Lys294Asn
XM_005251563.1:c.882G>C XP_005251620.1:p.Lys294Asn
XM_005251561.2:c.882G>C XP_005251618.1:p.Lys294Asn
XM_005251563.2:c.882G>C XP_005251620.1:p.Lys294Asn
ENST00000380036.8:c.882G>C ENSP00000369375.4:p.Lys294Asn
ENST00000406359.8:c.882G>C ENSP00000383977.4:p.Lys294Asn
ENST00000519080.1:c.441G>C ENSP00000428337.1:p.Lys147Asn
ENST00000519097.5:c.570G>C ENSP00000430686.1:p.Lys190Asn
ENST00000615002.4:c.882G>C ENSP00000480251.1:p.Lys294Asn