Canonical Allele Identifier: CA6326807
Gene: TECTA HGNC NCBI
TBCEL-TECTA HGNC NCBI

Linked Data

ClinVar Variation Id: 225485
ClinVar RCV Id: RCV000490363 RCV000728512
dbSNP Id: rs779401654
ExAC: 11:120996492 C / T
gnomAD v2: 11-120996492-C-T
gnomAD v3: 11-121125783-C-T
gnomAD v4: 11-121125783-C-T
COSMIC: COSM3727581
MyVariant Identifiers: chr11:g.120996492C>T (hg19) chr11:g.121125783C>T (hg38)
PubMed: PMID:21520338
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.121125783C>T , CM000673.2:g.121125783C>T GRCh38
NC_000011.9:g.120996492C>T , CM000673.1:g.120996492C>T GRCh37
NC_000011.8:g.120501702C>T NCBI36
NG_011633.1:g.28118C>T

Transcript Alleles

HGVS Amino-acid change
ENST00000392793.6:c.1685C>T (TECTA) MANE Select ENSP00000376543.1:p.Thr562Met
ENST00000642222.1:c.1685C>T (TECTA) ENSP00000493855.1:p.Thr562Met
ENST00000264037.2:c.1685C>T (TECTA) ENSP00000264037.2:p.Thr562Met
ENST00000392793.5:c.1685C>T (TECTA) ENSP00000376543.1:p.Thr562Met
NM_005422.2:c.1685C>T (TECTA) NP_005413.2:p.Thr562Met
NM_001378761.1:c.2642C>T (TBCEL-TECTA) NP_001365690.1:p.Thr881Met
NM_005422.4:c.1685C>T (TECTA) MANE Select NP_005413.2:p.Thr562Met
Search 100 bp 5'
Search 100 bp 3'