Canonical Allele Identifier: CA383021976
Gene: TECTA HGNC NCBI
TBCEL-TECTA HGNC NCBI

Linked Data

dbSNP Id: rs1421350356
gnomAD v2: 11-121016436-G-A
gnomAD v4: 11-121145727-G-A
MyVariant Identifiers: chr11:g.121016436G>A (hg19) chr11:g.121145727G>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.121145727G>A , CM000673.2:g.121145727G>A GRCh38
NC_000011.9:g.121016436G>A , CM000673.1:g.121016436G>A GRCh37
NC_000011.8:g.120521646G>A NCBI36
NG_011633.1:g.48062G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000392793.6:c.3716G>A (TECTA) MANE Select ENSP00000376543.1:p.Gly1239Asp
ENST00000642222.1:c.3716G>A (TECTA) ENSP00000493855.1:p.Gly1239Asp
ENST00000645008.1:c.1023G>A (TECTA)
ENST00000264037.2:c.3716G>A (TECTA) ENSP00000264037.2:p.Gly1239Asp
ENST00000392793.5:c.3716G>A (TECTA) ENSP00000376543.1:p.Gly1239Asp
ENST00000478058.1:n.281G>A (TECTA)
NM_005422.2:c.3716G>A (TECTA) NP_005413.2:p.Gly1239Asp
NM_001378761.1:c.4673G>A (TBCEL-TECTA) NP_001365690.1:p.Gly1558Asp
NM_005422.4:c.3716G>A (TECTA) MANE Select NP_005413.2:p.Gly1239Asp
Search 100 bp 5'
Search 100 bp 3'