Canonical Allele Identifier: CA2616488700

Gene: TECTA TBCEL-TECTA

Linked Data

• gnomAD v4: 11-121146146-G-T

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.121146146G>T , CM000673.2:g.121146146G>T	GRCh38
NC_000011.9:g.121016855G>T , CM000673.1:g.121016855G>T	GRCh37
NC_000011.8:g.120522065G>T	NCBI36
NG_011633.1:g.48481G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000392793.6:c.4105+30G>T (TECTA) MANE Select	ENSP00000376543.1:n.4105+30G>T
ENST00000642222.1:c.4105+30G>T (TECTA)	ENSP00000493855.1:n.4105+30G>T
ENST00000645008.1:c.1412+30G>T (TECTA)
ENST00000646278.1:n.41+30G>T (TECTA)
ENST00000264037.2:c.4105+30G>T (TECTA)	ENSP00000264037.2:n.4105+30G>T
ENST00000392793.5:c.4105+30G>T (TECTA)	ENSP00000376543.1:n.4105+30G>T
ENST00000478058.1:n.700G>T (TECTA)
NM_005422.2:c.4105+30G>T (TECTA)	NP_005413.2:n.4105+30G>T
NM_001378761.1:c.5062+30G>T (TBCEL-TECTA)	NP_001365690.1:n.5062+30G>T
NM_005422.4:c.4105+30G>T (TECTA) MANE Select	NP_005413.2:n.4105+30G>T