Canonical Allele Identifier: CA6326995
Gene: TECTA HGNC NCBI
TBCEL-TECTA HGNC NCBI

Linked Data

ClinVar Variation Id: 288521
dbSNP Id: rs111759871
COSMIC: COSM267560

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.121129714C>T , CM000673.2:g.121129714C>T GRCh38
NC_000011.9:g.121000423C>T , CM000673.1:g.121000423C>T GRCh37
NC_000011.8:g.120505633C>T NCBI36
NG_011633.1:g.32049C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000392793.6:c.2444C>T (TECTA) MANE Select ENSP00000376543.1:p.Thr815Met
ENST00000642222.1:c.2444C>T (TECTA) ENSP00000493855.1:p.Thr815Met
ENST00000264037.2:c.2444C>T (TECTA) ENSP00000264037.2:p.Thr815Met
ENST00000392793.5:c.2444C>T (TECTA) ENSP00000376543.1:p.Thr815Met
NM_005422.2:c.2444C>T (TECTA) NP_005413.2:p.Thr815Met
NM_001378761.1:c.3401C>T (TBCEL-TECTA) NP_001365690.1:p.Thr1134Met
NM_005422.4:c.2444C>T (TECTA) MANE Select NP_005413.2:p.Thr815Met