Canonical Allele Identifier: CA373125915
Gene: TEK HGNC NCBI

Linked Data

MyVariant Identifiers: chr9:g.27173341G>T (hg19) chr9:g.27173343G>T (hg38)
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Genomic Alleles

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

Transcript Alleles

HGVS Amino-acid change
ENST00000380036.10:c.882G>T MANE Select ENSP00000369375.4:p.Lys294Asn
ENST00000380036.8:c.882G>T ENSP00000369375.4:p.Lys294Asn
ENST00000406359.8:c.882G>T ENSP00000383977.4:p.Lys294Asn
ENST00000519080.1:c.441G>T ENSP00000428337.1:p.Lys147Asn
ENST00000519097.5:c.570G>T ENSP00000430686.1:p.Lys190Asn
ENST00000615002.4:c.882G>T ENSP00000480251.1:p.Lys294Asn
NM_000459.4:c.882G>T NP_000450.2:p.Lys294Asn
NM_001290077.1:c.882G>T NP_001277006.1:p.Lys294Asn
NM_001290078.1:c.570G>T NP_001277007.1:p.Lys190Asn
XM_005251561.1:c.882G>T XP_005251618.1:p.Lys294Asn
XM_005251563.1:c.882G>T XP_005251620.1:p.Lys294Asn
XM_005251561.2:c.882G>T XP_005251618.1:p.Lys294Asn
XM_005251563.2:c.882G>T XP_005251620.1:p.Lys294Asn
NM_000459.5:c.882G>T MANE Select NP_000450.3:p.Lys294Asn
NM_001375475.1:c.882G>T NP_001362404.1:p.Lys294Asn
NM_001375476.1:c.882G>T NP_001362405.1:p.Lys294Asn
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