Canonical Allele Identifier: CA383032313

Gene: TECTA TBCEL-TECTA

Linked Data

• gnomAD v4: 11-121162343-A-G
• MyVariant Identifiers: chr11:g.121033052A>G (hg19) ; chr11:g.121162343A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.121162343A>G , CM000673.2:g.121162343A>G	GRCh38
NC_000011.9:g.121033052A>G , CM000673.1:g.121033052A>G	GRCh37
NC_000011.8:g.120538262A>G	NCBI36
NG_011633.1:g.64678A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000392793.6:c.5245A>G (TECTA) MANE Select	ENSP00000376543.1:p.Thr1749Ala
ENST00000642222.1:c.5230A>G (TECTA)	ENSP00000493855.1:p.Thr1744Ala
ENST00000645008.1:c.2537A>G (TECTA)
ENST00000646278.1:n.1166A>G (TECTA)
ENST00000264037.2:c.5245A>G (TECTA)	ENSP00000264037.2:p.Thr1749Ala
ENST00000392793.5:c.5245A>G (TECTA)	ENSP00000376543.1:p.Thr1749Ala
NM_005422.2:c.5245A>G (TECTA)	NP_005413.2:p.Thr1749Ala
NM_001378761.1:c.6187A>G (TBCEL-TECTA)	NP_001365690.1:p.Thr2063Ala
NM_005422.4:c.5245A>G (TECTA) MANE Select	NP_005413.2:p.Thr1749Ala