Canonical Allele Identifier: CA6327308
Gene: TECTA HGNC NCBI
TBCEL-TECTA HGNC NCBI

Linked Data

ClinVar Variation Id: 1201099
ClinVar RCV Id: RCV001566327
dbSNP Id: rs137916023
ExAC: 11:121016616 A / G
gnomAD v2: 11-121016616-A-G
gnomAD v3: 11-121145907-A-G
gnomAD v4: 11-121145907-A-G
MyVariant Identifiers: chr11:g.121016616A>G (hg19) chr11:g.121145907A>G (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.121145907A>G , CM000673.2:g.121145907A>G GRCh38
NC_000011.9:g.121016616A>G , CM000673.1:g.121016616A>G GRCh37
NC_000011.8:g.120521826A>G NCBI36
NG_011633.1:g.48242A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000392793.6:c.3896A>G (TECTA) MANE Select ENSP00000376543.1:p.Gln1299Arg
ENST00000642222.1:c.3896A>G (TECTA) ENSP00000493855.1:p.Gln1299Arg
ENST00000645008.1:c.1203A>G (TECTA)
ENST00000264037.2:c.3896A>G (TECTA) ENSP00000264037.2:p.Gln1299Arg
ENST00000392793.5:c.3896A>G (TECTA) ENSP00000376543.1:p.Gln1299Arg
ENST00000478058.1:n.461A>G (TECTA)
NM_005422.2:c.3896A>G (TECTA) NP_005413.2:p.Gln1299Arg
NM_001378761.1:c.4853A>G (TBCEL-TECTA) NP_001365690.1:p.Gln1618Arg
NM_005422.4:c.3896A>G (TECTA) MANE Select NP_005413.2:p.Gln1299Arg
Search 100 bp 5'
Search 100 bp 3'