Canonical Allele Identifier: CA383022642
Gene: TECTA HGNC NCBI
TBCEL-TECTA HGNC NCBI

Linked Data

ClinVar Variation Id: 1810164
ClinVar RCV Id: RCV002508720
dbSNP Id: rs986051481

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.121145861C>T , CM000673.2:g.121145861C>T GRCh38
NC_000011.9:g.121016570C>T , CM000673.1:g.121016570C>T GRCh37
NC_000011.8:g.120521780C>T NCBI36
NG_011633.1:g.48196C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000392793.6:c.3850C>T (TECTA) MANE Select ENSP00000376543.1:p.Arg1284Cys
ENST00000642222.1:c.3850C>T (TECTA) ENSP00000493855.1:p.Arg1284Cys
ENST00000645008.1:c.1157C>T (TECTA)
ENST00000264037.2:c.3850C>T (TECTA) ENSP00000264037.2:p.Arg1284Cys
ENST00000392793.5:c.3850C>T (TECTA) ENSP00000376543.1:p.Arg1284Cys
ENST00000478058.1:n.415C>T (TECTA)
NM_005422.2:c.3850C>T (TECTA) NP_005413.2:p.Arg1284Cys
NM_001378761.1:c.4807C>T (TBCEL-TECTA) NP_001365690.1:p.Arg1603Cys
NM_005422.4:c.3850C>T (TECTA) MANE Select NP_005413.2:p.Arg1284Cys