Canonical Allele Identifier: CA178113
Gene: TECTA HGNC NCBI
TBCEL-TECTA HGNC NCBI

Linked Data

ClinVar Variation Id: 165370
dbSNP Id: rs144343770

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.121168762T>C , CM000673.2:g.121168762T>C GRCh38
NC_000011.9:g.121039471T>C , CM000673.1:g.121039471T>C GRCh37
NC_000011.8:g.120544681T>C NCBI36
NG_011633.1:g.71097T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000392793.6:c.5836T>C (TECTA) MANE Select ENSP00000376543.1:p.Tyr1946His
ENST00000642222.1:c.5821T>C (TECTA) ENSP00000493855.1:p.Tyr1941His
ENST00000645008.1:c.3128T>C (TECTA)
ENST00000646278.1:n.2216T>C (TECTA)
ENST00000264037.2:c.5836T>C (TECTA) ENSP00000264037.2:p.Tyr1946His
ENST00000392793.5:c.5836T>C (TECTA) ENSP00000376543.1:p.Tyr1946His
NM_005422.2:c.5836T>C (TECTA) NP_005413.2:p.Tyr1946His
NM_001378761.1:c.6778T>C (TBCEL-TECTA) NP_001365690.1:p.Tyr2260His
NM_005422.4:c.5836T>C (TECTA) MANE Select NP_005413.2:p.Tyr1946His