Canonical Allele Identifier: CA383034363
Gene: TECTA HGNC NCBI
TBCEL-TECTA HGNC NCBI

Linked Data

ClinVar Variation Id: 1297559
ClinVar RCV Id: RCV001723327
dbSNP Id: rs2135130073
MyVariant Identifiers: chr11:g.121037320G>A (hg19) chr11:g.121166611G>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.121166611G>A , CM000673.2:g.121166611G>A GRCh38
NC_000011.9:g.121037320G>A , CM000673.1:g.121037320G>A GRCh37
NC_000011.8:g.120542530G>A NCBI36
NG_011633.1:g.68946G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000392793.6:c.5417G>A (TECTA) MANE Select ENSP00000376543.1:p.Cys1806Tyr
ENST00000642222.1:c.5402G>A (TECTA) ENSP00000493855.1:p.Cys1801Tyr
ENST00000645008.1:c.2709G>A (TECTA)
ENST00000646278.1:n.1338G>A (TECTA)
ENST00000264037.2:c.5417G>A (TECTA) ENSP00000264037.2:p.Cys1806Tyr
ENST00000392793.5:c.5417G>A (TECTA) ENSP00000376543.1:p.Cys1806Tyr
NM_005422.2:c.5417G>A (TECTA) NP_005413.2:p.Cys1806Tyr
NM_001378761.1:c.6359G>A (TBCEL-TECTA) NP_001365690.1:p.Cys2120Tyr
NM_005422.4:c.5417G>A (TECTA) MANE Select NP_005413.2:p.Cys1806Tyr
Search 100 bp 5'
Search 100 bp 3'