Canonical Allele Identifier: CA6327743

Gene: TECTA TBCEL-TECTA

Linked Data

• ClinVar Variation Id: 1304316
• ClinVar RCV Id: RCV001752083
• dbSNP Id: rs770205136
• ExAC: 11:121037424 G / A
• gnomAD v2: 11-121037424-G-A
• gnomAD v3: 11-121166715-G-A
• gnomAD v4: 11-121166715-G-A
• MyVariant Identifiers: chr11:g.121037424G>A (hg19) ; chr11:g.121166715G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.121166715G>A , CM000673.2:g.121166715G>A	GRCh38
NC_000011.9:g.121037424G>A , CM000673.1:g.121037424G>A	GRCh37
NC_000011.8:g.120542634G>A	NCBI36
NG_011633.1:g.69050G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000392793.6:c.5521G>A (TECTA) MANE Select	ENSP00000376543.1:p.Glu1841Lys
ENST00000642222.1:c.5506G>A (TECTA)	ENSP00000493855.1:p.Glu1836Lys
ENST00000645008.1:c.2813G>A (TECTA)
ENST00000646278.1:n.1442G>A (TECTA)
ENST00000264037.2:c.5521G>A (TECTA)	ENSP00000264037.2:p.Glu1841Lys
ENST00000392793.5:c.5521G>A (TECTA)	ENSP00000376543.1:p.Glu1841Lys
NM_005422.2:c.5521G>A (TECTA)	NP_005413.2:p.Glu1841Lys
NM_001378761.1:c.6463G>A (TBCEL-TECTA)	NP_001365690.1:p.Glu2155Lys
NM_005422.4:c.5521G>A (TECTA) MANE Select	NP_005413.2:p.Glu1841Lys