Canonical Allele Identifier: CA6327723
Gene: TECTA HGNC NCBI
TBCEL-TECTA HGNC NCBI

Linked Data

dbSNP Id: rs778680683
ExAC: 11:121037317 C / T
gnomAD v2: 11-121037317-C-T
gnomAD v3: 11-121166608-C-T
gnomAD v4: 11-121166608-C-T
MyVariant Identifiers: chr11:g.121037317C>T (hg19) chr11:g.121166608C>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.121166608C>T , CM000673.2:g.121166608C>T GRCh38
NC_000011.9:g.121037317C>T , CM000673.1:g.121037317C>T GRCh37
NC_000011.8:g.120542527C>T NCBI36
NG_011633.1:g.68943C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000392793.6:c.5414C>T (TECTA) MANE Select ENSP00000376543.1:p.Thr1805Ile
ENST00000642222.1:c.5399C>T (TECTA) ENSP00000493855.1:p.Thr1800Ile
ENST00000645008.1:c.2706C>T (TECTA)
ENST00000646278.1:n.1335C>T (TECTA)
ENST00000264037.2:c.5414C>T (TECTA) ENSP00000264037.2:p.Thr1805Ile
ENST00000392793.5:c.5414C>T (TECTA) ENSP00000376543.1:p.Thr1805Ile
NM_005422.2:c.5414C>T (TECTA) NP_005413.2:p.Thr1805Ile
NM_001378761.1:c.6356C>T (TBCEL-TECTA) NP_001365690.1:p.Thr2119Ile
NM_005422.4:c.5414C>T (TECTA) MANE Select NP_005413.2:p.Thr1805Ile
Search 100 bp 5'
Search 100 bp 3'