Canonical Allele Identifier: CA2616490475

Gene: TECTA TBCEL-TECTA

Linked Data

• gnomAD v4: 11-121162435-A-G

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.121162435A>G , CM000673.2:g.121162435A>G	GRCh38
NC_000011.9:g.121033144A>G , CM000673.1:g.121033144A>G	GRCh37
NC_000011.8:g.120538354A>G	NCBI36
NG_011633.1:g.64770A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000392793.6:c.5272+65A>G (TECTA) MANE Select	ENSP00000376543.1:n.5272+65A>G
ENST00000642222.1:c.5257+65A>G (TECTA)	ENSP00000493855.1:n.5257+65A>G
ENST00000645008.1:c.2564+65A>G (TECTA)
ENST00000646278.1:n.1193+65A>G (TECTA)
ENST00000264037.2:c.5272+65A>G (TECTA)	ENSP00000264037.2:n.5272+65A>G
ENST00000392793.5:c.5272+65A>G (TECTA)	ENSP00000376543.1:n.5272+65A>G
NM_005422.2:c.5272+65A>G (TECTA)	NP_005413.2:n.5272+65A>G
NM_001378761.1:c.6214+65A>G (TBCEL-TECTA)	NP_001365690.1:n.6214+65A>G
NM_005422.4:c.5272+65A>G (TECTA) MANE Select	NP_005413.2:n.5272+65A>G