Canonical Allele Identifier: CA383022902
Community Standard Title: NM_005422.4(TECTA):c.3970T>G (p.Tyr1324Asp)
Gene: TECTA HGNC NCBI
TBCEL-TECTA HGNC NCBI
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Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.121145981T>G , CM000673.2:g.121145981T>G GRCh38
NC_000011.9:g.121016690T>G , CM000673.1:g.121016690T>G GRCh37
NC_000011.8:g.120521900T>G NCBI36
NG_011633.1:g.48316T>G

Transcript Alleles

HGVS Amino-acid Change
NM_005422.4:c.3970T>G (TECTA) MANE Select NP_005413.2:p.Tyr1324Asp
ENST00000392793.6:c.3970T>G (TECTA) MANE Select ENSP00000376543.1:p.Tyr1324Asp
NM_001378761.1:c.4927T>G (TBCEL-TECTA) NP_001365690.1:p.Tyr1643Asp
NM_005422.2:c.3970T>G (TECTA) NP_005413.2:p.Tyr1324Asp
ENST00000264037.2:c.3970T>G (TECTA) ENSP00000264037.2:p.Tyr1324Asp
ENST00000392793.5:c.3970T>G (TECTA) ENSP00000376543.1:p.Tyr1324Asp
ENST00000478058.1:n.535T>G (TECTA)
ENST00000642222.1:c.3970T>G (TECTA) ENSP00000493855.1:p.Tyr1324Asp
ENST00000645008.1:c.1277T>G (TECTA)
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