Canonical Allele Identifier: CA2689643395

Gene: TEK

Linked Data

• gnomAD v4: 9-27204859-T-C

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.27204859T>C , CM000671.2:g.27204859T>C	GRCh38
NC_000009.11:g.27204857T>C , CM000671.1:g.27204857T>C	GRCh37
NC_000009.10:g.27194857T>C	NCBI36
NG_011828.1:g.100711T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000380036.10:c.2210-52T>C MANE Select	ENSP00000369375.4:n.2210-52T>C
ENST00000380036.8:c.2210-52T>C	ENSP00000369375.4:n.2210-52T>C
ENST00000406359.8:c.2081-52T>C	ENSP00000383977.4:n.2081-52T>C
ENST00000519097.5:c.1769-52T>C	ENSP00000430686.1:n.1769-52T>C
ENST00000615002.4:c.*711-52T>C	ENSP00000480251.1:n.*711-52T>C
NM_000459.4:c.2210-52T>C	NP_000450.2:n.2210-52T>C
NM_001290077.1:c.2081-52T>C	NP_001277006.1:n.2081-52T>C
NM_001290078.1:c.1769-52T>C	NP_001277007.1:n.1769-52T>C
XM_005251561.1:c.2210-52T>C	XP_005251618.1:n.2210-52T>C
XM_005251563.1:c.2081-52T>C	XP_005251620.1:n.2081-52T>C
XM_005251561.2:c.2210-52T>C	XP_005251618.1:n.2210-52T>C
XM_005251563.2:c.2081-52T>C	XP_005251620.1:n.2081-52T>C
NM_000459.5:c.2210-52T>C MANE Select	NP_000450.3:n.2210-52T>C
NM_001375475.1:c.2210-52T>C	NP_001362404.1:n.2210-52T>C
NM_001375476.1:c.2081-52T>C	NP_001362405.1:n.2081-52T>C