Canonical Allele Identifier: CA373126081
Gene: TEK HGNC NCBI

Linked Data

dbSNP Id: rs1372354897
gnomAD v2: 9-27173355-A-T
gnomAD v3: 9-27173357-A-T
gnomAD v4: 9-27173357-A-T

Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.27173357A>T , CM000671.2:g.27173357A>T GRCh38
NC_000009.11:g.27173355A>T , CM000671.1:g.27173355A>T GRCh37
NC_000009.10:g.27163355A>T NCBI36
NG_011828.1:g.69209A>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000380036.10:c.896A>T MANE Select ENSP00000369375.4:p.Asn299Ile
ENST00000380036.8:c.896A>T ENSP00000369375.4:p.Asn299Ile
ENST00000406359.8:c.896A>T ENSP00000383977.4:p.Asn299Ile
ENST00000519080.1:c.455A>T ENSP00000428337.1:p.Asn152Ile
ENST00000519097.5:c.584A>T ENSP00000430686.1:p.Asn195Ile
ENST00000615002.4:c.896A>T ENSP00000480251.1:p.Asn299Ile
NM_000459.4:c.896A>T NP_000450.2:p.Asn299Ile
NM_001290077.1:c.896A>T NP_001277006.1:p.Asn299Ile
NM_001290078.1:c.584A>T NP_001277007.1:p.Asn195Ile
XM_005251561.1:c.896A>T XP_005251618.1:p.Asn299Ile
XM_005251563.1:c.896A>T XP_005251620.1:p.Asn299Ile
XM_005251561.2:c.896A>T XP_005251618.1:p.Asn299Ile
XM_005251563.2:c.896A>T XP_005251620.1:p.Asn299Ile
NM_000459.5:c.896A>T MANE Select NP_000450.3:p.Asn299Ile
NM_001375475.1:c.896A>T NP_001362404.1:p.Asn299Ile
NM_001375476.1:c.896A>T NP_001362405.1:p.Asn299Ile