Canonical Allele Identifier: CA383022240
Gene: TECTA HGNC NCBI
TBCEL-TECTA HGNC NCBI

Linked Data

COSMIC: COSM3808599
MyVariant Identifiers: chr11:g.121016479G>T (hg19) chr11:g.121145770G>T (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.121145770G>T , CM000673.2:g.121145770G>T GRCh38
NC_000011.9:g.121016479G>T , CM000673.1:g.121016479G>T GRCh37
NC_000011.8:g.120521689G>T NCBI36
NG_011633.1:g.48105G>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000392793.6:c.3759G>T (TECTA) MANE Select ENSP00000376543.1:p.Glu1253Asp
ENST00000642222.1:c.3759G>T (TECTA) ENSP00000493855.1:p.Glu1253Asp
ENST00000645008.1:c.1066G>T (TECTA)
ENST00000264037.2:c.3759G>T (TECTA) ENSP00000264037.2:p.Glu1253Asp
ENST00000392793.5:c.3759G>T (TECTA) ENSP00000376543.1:p.Glu1253Asp
ENST00000478058.1:n.324G>T (TECTA)
NM_005422.2:c.3759G>T (TECTA) NP_005413.2:p.Glu1253Asp
NM_001378761.1:c.4716G>T (TBCEL-TECTA) NP_001365690.1:p.Glu1572Asp
NM_005422.4:c.3759G>T (TECTA) MANE Select NP_005413.2:p.Glu1253Asp
Search 100 bp 5'
Search 100 bp 3'