Canonical Allele Identifier: CA383022326
Gene: TECTA HGNC NCBI
TBCEL-TECTA HGNC NCBI

Linked Data

ClinVar Variation Id: 2969140
ClinVar RCV Id: RCV003826810
gnomAD v4: 11-121145784-T-A
MyVariant Identifiers: chr11:g.121016493T>A (hg19) chr11:g.121145784T>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.121145784T>A , CM000673.2:g.121145784T>A GRCh38
NC_000011.9:g.121016493T>A , CM000673.1:g.121016493T>A GRCh37
NC_000011.8:g.120521703T>A NCBI36
NG_011633.1:g.48119T>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000392793.6:c.3773T>A (TECTA) MANE Select ENSP00000376543.1:p.Leu1258Gln
ENST00000642222.1:c.3773T>A (TECTA) ENSP00000493855.1:p.Leu1258Gln
ENST00000645008.1:c.1080T>A (TECTA)
ENST00000264037.2:c.3773T>A (TECTA) ENSP00000264037.2:p.Leu1258Gln
ENST00000392793.5:c.3773T>A (TECTA) ENSP00000376543.1:p.Leu1258Gln
ENST00000478058.1:n.338T>A (TECTA)
NM_005422.2:c.3773T>A (TECTA) NP_005413.2:p.Leu1258Gln
NM_001378761.1:c.4730T>A (TBCEL-TECTA) NP_001365690.1:p.Leu1577Gln
NM_005422.4:c.3773T>A (TECTA) MANE Select NP_005413.2:p.Leu1258Gln
Search 100 bp 5'
Search 100 bp 3'