Canonical Allele Identifier: CA2616489188

Gene: TECTA TBCEL-TECTA

Linked Data

• gnomAD v4: 11-121187815-T-C

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.121187815T>C , CM000673.2:g.121187815T>C	GRCh38
NC_000011.9:g.121058524T>C , CM000673.1:g.121058524T>C	GRCh37
NC_000011.8:g.120563734T>C	NCBI36
NG_011633.1:g.90150T>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000392793.6:c.6000-17T>C (TECTA) MANE Select	ENSP00000376543.1:n.6000-17T>C
ENST00000642222.1:c.5985-17T>C (TECTA)	ENSP00000493855.1:n.5985-17T>C
ENST00000645008.1:c.3292-17T>C (TECTA)
ENST00000646278.1:n.2380-17T>C (TECTA)
ENST00000264037.2:c.6000-17T>C (TECTA)	ENSP00000264037.2:n.6000-17T>C
ENST00000392793.5:c.6000-17T>C (TECTA)	ENSP00000376543.1:n.6000-17T>C
NM_005422.2:c.6000-17T>C (TECTA)	NP_005413.2:n.6000-17T>C
NM_001378761.1:c.6942-17T>C (TBCEL-TECTA)	NP_001365690.1:n.6942-17T>C
NM_005422.4:c.6000-17T>C (TECTA) MANE Select	NP_005413.2:n.6000-17T>C