Canonical Allele Identifier: CA383022663
Gene: TECTA HGNC NCBI
TBCEL-TECTA HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.121145871C>T , CM000673.2:g.121145871C>T GRCh38
NC_000011.9:g.121016580C>T , CM000673.1:g.121016580C>T GRCh37
NC_000011.8:g.120521790C>T NCBI36
NG_011633.1:g.48206C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000392793.6:c.3860C>T (TECTA) MANE Select ENSP00000376543.1:p.Ser1287Phe
ENST00000642222.1:c.3860C>T (TECTA) ENSP00000493855.1:p.Ser1287Phe
ENST00000645008.1:c.1167C>T (TECTA)
ENST00000264037.2:c.3860C>T (TECTA) ENSP00000264037.2:p.Ser1287Phe
ENST00000392793.5:c.3860C>T (TECTA) ENSP00000376543.1:p.Ser1287Phe
ENST00000478058.1:n.425C>T (TECTA)
NM_005422.2:c.3860C>T (TECTA) NP_005413.2:p.Ser1287Phe
NM_001378761.1:c.4817C>T (TBCEL-TECTA) NP_001365690.1:p.Ser1606Phe
NM_005422.4:c.3860C>T (TECTA) MANE Select NP_005413.2:p.Ser1287Phe