Canonical Allele Identifier: CA383018276
Gene: TECTA HGNC NCBI
TBCEL-TECTA HGNC NCBI

Linked Data

dbSNP Id: rs1277409129

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.121137450G>C , CM000673.2:g.121137450G>C GRCh38
NC_000011.9:g.121008159G>C , CM000673.1:g.121008159G>C GRCh37
NC_000011.8:g.120513369G>C NCBI36
NG_011633.1:g.39785G>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000392793.6:c.2971G>C (TECTA) MANE Select ENSP00000376543.1:p.Glu991Gln
ENST00000642222.1:c.2971G>C (TECTA) ENSP00000493855.1:p.Glu991Gln
ENST00000645008.1:c.278G>C (TECTA)
ENST00000264037.2:c.2971G>C (TECTA) ENSP00000264037.2:p.Glu991Gln
ENST00000392793.5:c.2971G>C (TECTA) ENSP00000376543.1:p.Glu991Gln
NM_005422.2:c.2971G>C (TECTA) NP_005413.2:p.Glu991Gln
NM_001378761.1:c.3928G>C (TBCEL-TECTA) NP_001365690.1:p.Glu1310Gln
NM_005422.4:c.2971G>C (TECTA) MANE Select NP_005413.2:p.Glu991Gln