Canonical Allele Identifier: CA6327866

Gene: TECTA TBCEL-TECTA

Linked Data

• dbSNP Id: rs747826461
• ExAC: 11:121058528 T / A
• gnomAD v2: 11-121058528-T-A
• gnomAD v4: 11-121187819-T-A
• MyVariant Identifiers: chr11:g.121058528T>A (hg19) ; chr11:g.121187819T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.121187819T>A , CM000673.2:g.121187819T>A	GRCh38
NC_000011.9:g.121058528T>A , CM000673.1:g.121058528T>A	GRCh37
NC_000011.8:g.120563738T>A	NCBI36
NG_011633.1:g.90154T>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000392793.6:c.6000-13T>A (TECTA) MANE Select	ENSP00000376543.1:n.6000-13T>A
ENST00000642222.1:c.5985-13T>A (TECTA)	ENSP00000493855.1:n.5985-13T>A
ENST00000645008.1:c.3292-13T>A (TECTA)
ENST00000646278.1:n.2380-13T>A (TECTA)
ENST00000264037.2:c.6000-13T>A (TECTA)	ENSP00000264037.2:n.6000-13T>A
ENST00000392793.5:c.6000-13T>A (TECTA)	ENSP00000376543.1:n.6000-13T>A
NM_005422.2:c.6000-13T>A (TECTA)	NP_005413.2:n.6000-13T>A
NM_001378761.1:c.6942-13T>A (TBCEL-TECTA)	NP_001365690.1:n.6942-13T>A
NM_005422.4:c.6000-13T>A (TECTA) MANE Select	NP_005413.2:n.6000-13T>A