Canonical Allele Identifier: CA16605870
Gene: TECTA HGNC NCBI
TBCEL-TECTA HGNC NCBI

Linked Data

ClinVar Variation Id: 379299
ClinVar RCV Id: RCV000428198
dbSNP Id: rs1057520561

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.121168867T>A , CM000673.2:g.121168867T>A GRCh38
NC_000011.9:g.121039576T>A , CM000673.1:g.121039576T>A GRCh37
NC_000011.8:g.120544786T>A NCBI36
NG_011633.1:g.71202T>A

Transcript Alleles

HGVS Amino-acid change
ENST00000392793.6:c.5941T>A (TECTA) MANE Select ENSP00000376543.1:p.Tyr1981Asn
ENST00000642222.1:c.5926T>A (TECTA) ENSP00000493855.1:p.Tyr1976Asn
ENST00000645008.1:c.3233T>A (TECTA)
ENST00000646278.1:n.2321T>A (TECTA)
ENST00000264037.2:c.5941T>A (TECTA) ENSP00000264037.2:p.Tyr1981Asn
ENST00000392793.5:c.5941T>A (TECTA) ENSP00000376543.1:p.Tyr1981Asn
NM_005422.2:c.5941T>A (TECTA) NP_005413.2:p.Tyr1981Asn
NM_001378761.1:c.6883T>A (TBCEL-TECTA) NP_001365690.1:p.Tyr2295Asn
NM_005422.4:c.5941T>A (TECTA) MANE Select NP_005413.2:p.Tyr1981Asn