Canonical Allele Identifier: CA383029219

Gene: TECTA TBCEL-TECTA

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.121160300T>A , CM000673.2:g.121160300T>A	GRCh38
NC_000011.9:g.121031009T>A , CM000673.1:g.121031009T>A	GRCh37
NC_000011.8:g.120536219T>A	NCBI36
NG_011633.1:g.62635T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000392793.6:c.4855T>A (TECTA) MANE Select	ENSP00000376543.1:p.Cys1619Ser
ENST00000642222.1:c.4855T>A (TECTA)	ENSP00000493855.1:p.Cys1619Ser
ENST00000645008.1:c.2162T>A (TECTA)
ENST00000646278.1:n.791T>A (TECTA)
ENST00000264037.2:c.4855T>A (TECTA)	ENSP00000264037.2:p.Cys1619Ser
ENST00000392793.5:c.4855T>A (TECTA)	ENSP00000376543.1:p.Cys1619Ser
NM_005422.2:c.4855T>A (TECTA)	NP_005413.2:p.Cys1619Ser
NM_001378761.1:c.5812T>A (TBCEL-TECTA)	NP_001365690.1:p.Cys1938Ser
NM_005422.4:c.4855T>A (TECTA) MANE Select	NP_005413.2:p.Cys1619Ser