Canonical Allele Identifier: CA6327746
Gene: TECTA HGNC NCBI
TBCEL-TECTA HGNC NCBI

Linked Data

ClinVar Variation Id: 303034
ClinVar RCV Id: RCV000292202 RCV000351849
dbSNP Id: rs775852521
ExAC: 11:121037453 C / G
gnomAD v2: 11-121037453-C-G
gnomAD v3: 11-121166744-C-G
gnomAD v4: 11-121166744-C-G
MyVariant Identifiers: chr11:g.121037453C>G (hg19) chr11:g.121166744C>G (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.121166744C>G , CM000673.2:g.121166744C>G GRCh38
NC_000011.9:g.121037453C>G , CM000673.1:g.121037453C>G GRCh37
NC_000011.8:g.120542663C>G NCBI36
NG_011633.1:g.69079C>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000392793.6:c.5550C>G (TECTA) MANE Select ENSP00000376543.1:p.Ile1850Met
ENST00000642222.1:c.5535C>G (TECTA) ENSP00000493855.1:p.Ile1845Met
ENST00000645008.1:c.2842C>G (TECTA)
ENST00000646278.1:n.1471C>G (TECTA)
ENST00000264037.2:c.5550C>G (TECTA) ENSP00000264037.2:p.Ile1850Met
ENST00000392793.5:c.5550C>G (TECTA) ENSP00000376543.1:p.Ile1850Met
NM_005422.2:c.5550C>G (TECTA) NP_005413.2:p.Ile1850Met
NM_001378761.1:c.6492C>G (TBCEL-TECTA) NP_001365690.1:p.Ile2164Met
NM_005422.4:c.5550C>G (TECTA) MANE Select NP_005413.2:p.Ile1850Met
Search 100 bp 5'
Search 100 bp 3'