Canonical Allele Identifier: CA6326503

Gene: TECTA TBCEL-TECTA

Linked Data

• ClinVar Variation Id: 3023994
• ClinVar RCV Id: RCV003881089
• dbSNP Id: rs200672970
• ExAC: 11:120983762 G / A
• gnomAD v2: 11-120983762-G-A
• gnomAD v3: 11-121113053-G-A
• gnomAD v4: 11-121113053-G-A
• MyVariant Identifiers: chr11:g.120983762G>A (hg19) ; chr11:g.121113053G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.121113053G>A , CM000673.2:g.121113053G>A	GRCh38
NC_000011.9:g.120983762G>A , CM000673.1:g.120983762G>A	GRCh37
NC_000011.8:g.120488972G>A	NCBI36
NG_011633.1:g.15388G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000392793.6:c.487-19G>A (TECTA) MANE Select	ENSP00000376543.1:n.487-19G>A
ENST00000642222.1:c.487-19G>A (TECTA)	ENSP00000493855.1:n.487-19G>A
ENST00000645041.1:c.1396-19G>A (TBCEL-TECTA)	ENSP00000496315.1:n.1396-19G>A
ENST00000264037.2:c.487-19G>A (TECTA)	ENSP00000264037.2:n.487-19G>A
ENST00000392793.5:c.487-19G>A (TECTA)	ENSP00000376543.1:n.487-19G>A
NM_005422.2:c.487-19G>A (TECTA)	NP_005413.2:n.487-19G>A
NM_001378761.1:c.1444-19G>A (TBCEL-TECTA)	NP_001365690.1:n.1444-19G>A
NM_005422.4:c.487-19G>A (TECTA) MANE Select	NP_005413.2:n.487-19G>A