Canonical Allele Identifier: CA383032204
Gene: TECTA HGNC NCBI
TBCEL-TECTA HGNC NCBI

Linked Data

dbSNP Id: rs764907737
gnomAD v2: 11-121033001-G-T
gnomAD v4: 11-121162292-G-T
COSMIC: COSM1228874
MyVariant Identifiers: chr11:g.121033001G>T (hg19) chr11:g.121162292G>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.121162292G>T , CM000673.2:g.121162292G>T GRCh38
NC_000011.9:g.121033001G>T , CM000673.1:g.121033001G>T GRCh37
NC_000011.8:g.120538211G>T NCBI36
NG_011633.1:g.64627G>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000392793.6:c.5194G>T (TECTA) MANE Select ENSP00000376543.1:p.Gly1732Cys
ENST00000642222.1:c.5179G>T (TECTA) ENSP00000493855.1:p.Gly1727Cys
ENST00000645008.1:c.2486G>T (TECTA)
ENST00000646278.1:n.1115G>T (TECTA)
ENST00000264037.2:c.5194G>T (TECTA) ENSP00000264037.2:p.Gly1732Cys
ENST00000392793.5:c.5194G>T (TECTA) ENSP00000376543.1:p.Gly1732Cys
NM_005422.2:c.5194G>T (TECTA) NP_005413.2:p.Gly1732Cys
NM_001378761.1:c.6136G>T (TBCEL-TECTA) NP_001365690.1:p.Gly2046Cys
NM_005422.4:c.5194G>T (TECTA) MANE Select NP_005413.2:p.Gly1732Cys
Search 100 bp 5'
Search 100 bp 3'