Canonical Allele Identifier: CA6327669
Gene: TECTA HGNC NCBI
TBCEL-TECTA HGNC NCBI

Linked Data

ClinVar Variation Id: 2778177
ClinVar RCV Id: RCV003661305
dbSNP Id: rs752025324
ExAC: 11:121033016 T / C
gnomAD v2: 11-121033016-T-C
gnomAD v3: 11-121162307-T-C
gnomAD v4: 11-121162307-T-C
MyVariant Identifiers: chr11:g.121033016T>C (hg19) chr11:g.121162307T>C (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.121162307T>C , CM000673.2:g.121162307T>C GRCh38
NC_000011.9:g.121033016T>C , CM000673.1:g.121033016T>C GRCh37
NC_000011.8:g.120538226T>C NCBI36
NG_011633.1:g.64642T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000392793.6:c.5209T>C (TECTA) MANE Select ENSP00000376543.1:p.Tyr1737His
ENST00000642222.1:c.5194T>C (TECTA) ENSP00000493855.1:p.Tyr1732His
ENST00000645008.1:c.2501T>C (TECTA)
ENST00000646278.1:n.1130T>C (TECTA)
ENST00000264037.2:c.5209T>C (TECTA) ENSP00000264037.2:p.Tyr1737His
ENST00000392793.5:c.5209T>C (TECTA) ENSP00000376543.1:p.Tyr1737His
NM_005422.2:c.5209T>C (TECTA) NP_005413.2:p.Tyr1737His
NM_001378761.1:c.6151T>C (TBCEL-TECTA) NP_001365690.1:p.Tyr2051His
NM_005422.4:c.5209T>C (TECTA) MANE Select NP_005413.2:p.Tyr1737His
Search 100 bp 5'
Search 100 bp 3'