Canonical Allele Identifier: CA383034367
Gene: TECTA HGNC NCBI
TBCEL-TECTA HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.121166612C>G , CM000673.2:g.121166612C>G GRCh38
NC_000011.9:g.121037321C>G , CM000673.1:g.121037321C>G GRCh37
NC_000011.8:g.120542531C>G NCBI36
NG_011633.1:g.68947C>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000392793.6:c.5418C>G (TECTA) MANE Select ENSP00000376543.1:p.Cys1806Trp
ENST00000642222.1:c.5403C>G (TECTA) ENSP00000493855.1:p.Cys1801Trp
ENST00000645008.1:c.2710C>G (TECTA)
ENST00000646278.1:n.1339C>G (TECTA)
ENST00000264037.2:c.5418C>G (TECTA) ENSP00000264037.2:p.Cys1806Trp
ENST00000392793.5:c.5418C>G (TECTA) ENSP00000376543.1:p.Cys1806Trp
NM_005422.2:c.5418C>G (TECTA) NP_005413.2:p.Cys1806Trp
NM_001378761.1:c.6360C>G (TBCEL-TECTA) NP_001365690.1:p.Cys2120Trp
NM_005422.4:c.5418C>G (TECTA) MANE Select NP_005413.2:p.Cys1806Trp