Canonical Allele Identifier: CA6327269

Gene: TECTA TBCEL-TECTA

Linked Data

• ClinVar Variation Id: 2576694
• ClinVar RCV Id: RCV003322999 ; RCV004334070
• dbSNP Id: rs773546195
• ExAC: 11:121016412 G / A
• gnomAD v2: 11-121016412-G-A
• gnomAD v3: 11-121145703-G-A
• gnomAD v4: 11-121145703-G-A
• MyVariant Identifiers: chr11:g.121016412G>A (hg19) ; chr11:g.121145703G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.121145703G>A , CM000673.2:g.121145703G>A	GRCh38
NC_000011.9:g.121016412G>A , CM000673.1:g.121016412G>A	GRCh37
NC_000011.8:g.120521622G>A	NCBI36
NG_011633.1:g.48038G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000392793.6:c.3692G>A (TECTA) MANE Select	ENSP00000376543.1:p.Arg1231Gln
ENST00000642222.1:c.3692G>A (TECTA)	ENSP00000493855.1:p.Arg1231Gln
ENST00000645008.1:c.999G>A (TECTA)
ENST00000264037.2:c.3692G>A (TECTA)	ENSP00000264037.2:p.Arg1231Gln
ENST00000392793.5:c.3692G>A (TECTA)	ENSP00000376543.1:p.Arg1231Gln
ENST00000478058.1:n.257G>A (TECTA)
NM_005422.2:c.3692G>A (TECTA)	NP_005413.2:p.Arg1231Gln
NM_001378761.1:c.4649G>A (TBCEL-TECTA)	NP_001365690.1:p.Arg1550Gln
NM_005422.4:c.3692G>A (TECTA) MANE Select	NP_005413.2:p.Arg1231Gln