Canonical Allele Identifier: CA6327702
Gene: TECTA HGNC NCBI
TBCEL-TECTA HGNC NCBI

Linked Data

ClinVar Variation Id: 988546
ClinVar RCV Id: RCV001269970
dbSNP Id: rs773854426
ExAC: 11:121036026 C / T
gnomAD v2: 11-121036026-C-T
gnomAD v3: 11-121165317-C-T
gnomAD v4: 11-121165317-C-T
MyVariant Identifiers: chr11:g.121036026C>T (hg19) chr11:g.121165317C>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.121165317C>T , CM000673.2:g.121165317C>T GRCh38
NC_000011.9:g.121036026C>T , CM000673.1:g.121036026C>T GRCh37
NC_000011.8:g.120541236C>T NCBI36
NG_011633.1:g.67652C>T

Transcript Alleles

HGVS Amino-acid change
ENST00000392793.6:c.5317C>T (TECTA) MANE Select ENSP00000376543.1:p.Arg1773Ter
ENST00000642222.1:c.5302C>T (TECTA) ENSP00000493855.1:p.Arg1768Ter
ENST00000645008.1:c.2609C>T (TECTA)
ENST00000646278.1:n.1238C>T (TECTA)
ENST00000264037.2:c.5317C>T (TECTA) ENSP00000264037.2:p.Arg1773Ter
ENST00000392793.5:c.5317C>T (TECTA) ENSP00000376543.1:p.Arg1773Ter
NM_005422.2:c.5317C>T (TECTA) NP_005413.2:p.Arg1773Ter
NM_001378761.1:c.6259C>T (TBCEL-TECTA) NP_001365690.1:p.Arg2087Ter
NM_005422.4:c.5317C>T (TECTA) MANE Select NP_005413.2:p.Arg1773Ter
Search 100 bp 5'
Search 100 bp 3'