Canonical Allele Identifier: CA229831631
Gene: TECTA HGNC NCBI
TBCEL-TECTA HGNC NCBI

Linked Data

ClinVar Variation Id: 929985
ClinVar RCV Id: RCV001195356
dbSNP Id: rs527881617

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.121145909C>T , CM000673.2:g.121145909C>T GRCh38
NC_000011.9:g.121016618C>T , CM000673.1:g.121016618C>T GRCh37
NC_000011.8:g.120521828C>T NCBI36
NG_011633.1:g.48244C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000392793.6:c.3898C>T (TECTA) MANE Select ENSP00000376543.1:p.Leu1300=
ENST00000642222.1:c.3898C>T (TECTA) ENSP00000493855.1:p.Leu1300=
ENST00000645008.1:c.1205C>T (TECTA)
ENST00000264037.2:c.3898C>T (TECTA) ENSP00000264037.2:p.Leu1300=
ENST00000392793.5:c.3898C>T (TECTA) ENSP00000376543.1:p.Leu1300=
ENST00000478058.1:n.463C>T (TECTA)
NM_005422.2:c.3898C>T (TECTA) NP_005413.2:p.Leu1300=
NM_001378761.1:c.4855C>T (TBCEL-TECTA) NP_001365690.1:p.Leu1619=
NM_005422.4:c.3898C>T (TECTA) MANE Select NP_005413.2:p.Leu1300=