Canonical Allele Identifier: CA383031186
Gene: TECTA HGNC NCBI
TBCEL-TECTA HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.121162083C>T , CM000673.2:g.121162083C>T GRCh38
NC_000011.9:g.121032792C>T , CM000673.1:g.121032792C>T GRCh37
NC_000011.8:g.120538002C>T NCBI36
NG_011633.1:g.64418C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000392793.6:c.4985C>T (TECTA) MANE Select ENSP00000376543.1:p.Ala1662Val
ENST00000642222.1:c.4977-7C>T (TECTA) ENSP00000493855.1:n.4977-7C>T
ENST00000645008.1:c.2284-7C>T (TECTA)
ENST00000646278.1:n.913-7C>T (TECTA)
ENST00000264037.2:c.4985C>T (TECTA) ENSP00000264037.2:p.Ala1662Val
ENST00000392793.5:c.4985C>T (TECTA) ENSP00000376543.1:p.Ala1662Val
NM_005422.2:c.4985C>T (TECTA) NP_005413.2:p.Ala1662Val
NM_001378761.1:c.5934-7C>T (TBCEL-TECTA) NP_001365690.1:n.5934-7C>T
NM_005422.4:c.4985C>T (TECTA) MANE Select NP_005413.2:p.Ala1662Val