Canonical Allele Identifier: CA383027922

Gene: TECTA TBCEL-TECTA

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.121158186G>A , CM000673.2:g.121158186G>A	GRCh38
NC_000011.9:g.121028895G>A , CM000673.1:g.121028895G>A	GRCh37
NC_000011.8:g.120534105G>A	NCBI36
NG_011633.1:g.60521G>A

Transcript Alleles

HGVS	Amino-acid Change
NM_005422.4:c.4651G>A (TECTA) MANE Select	NP_005413.2:p.Glu1551Lys
ENST00000392793.6:c.4651G>A (TECTA) MANE Select	ENSP00000376543.1:p.Glu1551Lys
NM_001378761.1:c.5608G>A (TBCEL-TECTA)	NP_001365690.1:p.Glu1870Lys
NM_005422.2:c.4651G>A (TECTA)	NP_005413.2:p.Glu1551Lys
ENST00000264037.2:c.4651G>A (TECTA)	ENSP00000264037.2:p.Glu1551Lys
ENST00000392793.5:c.4651G>A (TECTA)	ENSP00000376543.1:p.Glu1551Lys
ENST00000642222.1:c.4651G>A (TECTA)	ENSP00000493855.1:p.Glu1551Lys
ENST00000645008.1:c.1958G>A (TECTA)
ENST00000646278.1:n.587G>A (TECTA)