Canonical Allele Identifier: CA2689641748

Gene: TEK

Linked Data

• gnomAD v4: 9-27183402-C-T

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.27183402C>T , CM000671.2:g.27183402C>T	GRCh38
NC_000009.11:g.27183400C>T , CM000671.1:g.27183400C>T	GRCh37
NC_000009.10:g.27173400C>T	NCBI36
NG_011828.1:g.79254C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000380036.10:c.1031-57C>T MANE Select	ENSP00000369375.4:n.1031-57C>T
ENST00000380036.8:c.1031-57C>T	ENSP00000369375.4:n.1031-57C>T
ENST00000406359.8:c.902-57C>T	ENSP00000383977.4:n.902-57C>T
ENST00000519080.1:c.461-57C>T	ENSP00000428337.1:n.461-57C>T
ENST00000519097.5:c.590-57C>T	ENSP00000430686.1:n.590-57C>T
ENST00000615002.4:c.902-57C>T	ENSP00000480251.1:n.902-57C>T
NM_000459.4:c.1031-57C>T	NP_000450.2:n.1031-57C>T
NM_001290077.1:c.902-57C>T	NP_001277006.1:n.902-57C>T
NM_001290078.1:c.590-57C>T	NP_001277007.1:n.590-57C>T
XM_005251561.1:c.1031-57C>T	XP_005251618.1:n.1031-57C>T
XM_005251563.1:c.902-57C>T	XP_005251620.1:n.902-57C>T
XM_005251561.2:c.1031-57C>T	XP_005251618.1:n.1031-57C>T
XM_005251563.2:c.902-57C>T	XP_005251620.1:n.902-57C>T
NM_000459.5:c.1031-57C>T MANE Select	NP_000450.3:n.1031-57C>T
NM_001375475.1:c.1031-57C>T	NP_001362404.1:n.1031-57C>T
NM_001375476.1:c.902-57C>T	NP_001362405.1:n.902-57C>T