Canonical Allele Identifier: CA383031331
Gene: TECTA HGNC NCBI
TBCEL-TECTA HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.121162101T>C , CM000673.2:g.121162101T>C GRCh38
NC_000011.9:g.121032810T>C , CM000673.1:g.121032810T>C GRCh37
NC_000011.8:g.120538020T>C NCBI36
NG_011633.1:g.64436T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000392793.6:c.5003T>C (TECTA) MANE Select ENSP00000376543.1:p.Leu1668Pro
ENST00000642222.1:c.4988T>C (TECTA) ENSP00000493855.1:p.Leu1663Pro
ENST00000645008.1:c.2295T>C (TECTA)
ENST00000646278.1:n.924T>C (TECTA)
ENST00000264037.2:c.5003T>C (TECTA) ENSP00000264037.2:p.Leu1668Pro
ENST00000392793.5:c.5003T>C (TECTA) ENSP00000376543.1:p.Leu1668Pro
NM_005422.2:c.5003T>C (TECTA) NP_005413.2:p.Leu1668Pro
NM_001378761.1:c.5945T>C (TBCEL-TECTA) NP_001365690.1:p.Leu1982Pro
NM_005422.4:c.5003T>C (TECTA) MANE Select NP_005413.2:p.Leu1668Pro