Canonical Allele Identifier: CA383022686
Gene: TECTA HGNC NCBI
TBCEL-TECTA HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.121145883T>C , CM000673.2:g.121145883T>C GRCh38
NC_000011.9:g.121016592T>C , CM000673.1:g.121016592T>C GRCh37
NC_000011.8:g.120521802T>C NCBI36
NG_011633.1:g.48218T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000392793.6:c.3872T>C (TECTA) MANE Select ENSP00000376543.1:p.Val1291Ala
ENST00000642222.1:c.3872T>C (TECTA) ENSP00000493855.1:p.Val1291Ala
ENST00000645008.1:c.1179T>C (TECTA)
ENST00000264037.2:c.3872T>C (TECTA) ENSP00000264037.2:p.Val1291Ala
ENST00000392793.5:c.3872T>C (TECTA) ENSP00000376543.1:p.Val1291Ala
ENST00000478058.1:n.437T>C (TECTA)
NM_005422.2:c.3872T>C (TECTA) NP_005413.2:p.Val1291Ala
NM_001378761.1:c.4829T>C (TBCEL-TECTA) NP_001365690.1:p.Val1610Ala
NM_005422.4:c.3872T>C (TECTA) MANE Select NP_005413.2:p.Val1291Ala