Canonical Allele Identifier: CA6327849
Gene: TECTA HGNC NCBI
TBCEL-TECTA HGNC NCBI

Linked Data

ClinVar Variation Id: 520766
ClinVar RCV Id: RCV000622413
dbSNP Id: rs143748991
ExAC: 11:121039625 T / C
gnomAD v2: 11-121039625-T-C
gnomAD v3: 11-121168916-T-C
gnomAD v4: 11-121168916-T-C
MyVariant Identifiers: chr11:g.121039625T>C (hg19) chr11:g.121168916T>C (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.121168916T>C , CM000673.2:g.121168916T>C GRCh38
NC_000011.9:g.121039625T>C , CM000673.1:g.121039625T>C GRCh37
NC_000011.8:g.120544835T>C NCBI36
NG_011633.1:g.71251T>C

Transcript Alleles

HGVS Amino-acid change
ENST00000392793.6:c.5990T>C (TECTA) MANE Select ENSP00000376543.1:p.Ile1997Thr
ENST00000642222.1:c.5975T>C (TECTA) ENSP00000493855.1:p.Ile1992Thr
ENST00000645008.1:c.3282T>C (TECTA)
ENST00000646278.1:n.2370T>C (TECTA)
ENST00000264037.2:c.5990T>C (TECTA) ENSP00000264037.2:p.Ile1997Thr
ENST00000392793.5:c.5990T>C (TECTA) ENSP00000376543.1:p.Ile1997Thr
NM_005422.2:c.5990T>C (TECTA) NP_005413.2:p.Ile1997Thr
NM_001378761.1:c.6932T>C (TBCEL-TECTA) NP_001365690.1:p.Ile2311Thr
NM_005422.4:c.5990T>C (TECTA) MANE Select NP_005413.2:p.Ile1997Thr
Search 100 bp 5'
Search 100 bp 3'