Allele Registry

UPDATE - Protein Allele ID & Protein Sequence HGVS Requests Partially Restored
Protein allele requests are no longer disabled.
Currently, hypothetical explanatory transcript generation is not part of the response and is being investigated.

ClinGen Allele Registry

Canonical Allele Identifier: CA383022642

Gene: TECTA HGNC NCBI
TBCEL-TECTA HGNC NCBI

Linked Data

ClinVar Variation Id: 1810164

ClinVar RCV Id: RCV002508720

dbSNP Id: rs986051481

gnomAD v4: 11-121145861-C-T

MyVariant Identifiers: chr11:g.121016570C>T (hg19) chr11:g.121145861C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.121145861C>T , CM000673.2:g.121145861C>T	GRCh38
NC_000011.9:g.121016570C>T , CM000673.1:g.121016570C>T	GRCh37
NC_000011.8:g.120521780C>T	NCBI36
NG_011633.1:g.48196C>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000392793.6:c.3850C>T (TECTA) MANE Select	ENSP00000376543.1:p.Arg1284Cys
ENST00000642222.1:c.3850C>T (TECTA)	ENSP00000493855.1:p.Arg1284Cys
ENST00000645008.1:c.1157C>T (TECTA)
ENST00000264037.2:c.3850C>T (TECTA)	ENSP00000264037.2:p.Arg1284Cys
ENST00000392793.5:c.3850C>T (TECTA)	ENSP00000376543.1:p.Arg1284Cys
ENST00000478058.1:n.415C>T (TECTA)
NM_005422.2:c.3850C>T (TECTA)	NP_005413.2:p.Arg1284Cys
NM_001378761.1:c.4807C>T (TBCEL-TECTA)	NP_001365690.1:p.Arg1603Cys
NM_005422.4:c.3850C>T (TECTA) MANE Select	NP_005413.2:p.Arg1284Cys