Canonical Allele Identifier: CA383031731

Gene: TECTA TBCEL-TECTA

Linked Data

• dbSNP Id: rs1434828936
• gnomAD v2: 11-121032899-A-G
• gnomAD v4: 11-121162190-A-G
• MyVariant Identifiers: chr11:g.121032899A>G (hg19) ; chr11:g.121162190A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.121162190A>G , CM000673.2:g.121162190A>G	GRCh38
NC_000011.9:g.121032899A>G , CM000673.1:g.121032899A>G	GRCh37
NC_000011.8:g.120538109A>G	NCBI36
NG_011633.1:g.64525A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000392793.6:c.5092A>G (TECTA) MANE Select	ENSP00000376543.1:p.Lys1698Glu
ENST00000642222.1:c.5077A>G (TECTA)	ENSP00000493855.1:p.Lys1693Glu
ENST00000645008.1:c.2384A>G (TECTA)
ENST00000646278.1:n.1013A>G (TECTA)
ENST00000264037.2:c.5092A>G (TECTA)	ENSP00000264037.2:p.Lys1698Glu
ENST00000392793.5:c.5092A>G (TECTA)	ENSP00000376543.1:p.Lys1698Glu
NM_005422.2:c.5092A>G (TECTA)	NP_005413.2:p.Lys1698Glu
NM_001378761.1:c.6034A>G (TBCEL-TECTA)	NP_001365690.1:p.Lys2012Glu
NM_005422.4:c.5092A>G (TECTA) MANE Select	NP_005413.2:p.Lys1698Glu