Canonical Allele Identifier: CA181112
Gene: TECTA HGNC NCBI
TBCEL-TECTA HGNC NCBI

Linked Data

ClinVar Variation Id: 177979
ClinVar RCV Id: RCV000154654 RCV001105295 RCV001103383 RCV001657878 RCV002516106
dbSNP Id: rs138843691
ExAC: 11:120996098 A / T
gnomAD v2: 11-120996098-A-T
gnomAD v3: 11-121125389-A-T
gnomAD v4: 11-121125389-A-T
MyVariant Identifiers: chr11:g.120996098A>T (hg19) chr11:g.121125389A>T (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.121125389A>T , CM000673.2:g.121125389A>T GRCh38
NC_000011.9:g.120996098A>T , CM000673.1:g.120996098A>T GRCh37
NC_000011.8:g.120501308A>T NCBI36
NG_011633.1:g.27724A>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000392793.6:c.1291A>T (TECTA) MANE Select ENSP00000376543.1:p.Thr431Ser
ENST00000642222.1:c.1291A>T (TECTA) ENSP00000493855.1:p.Thr431Ser
ENST00000264037.2:c.1291A>T (TECTA) ENSP00000264037.2:p.Thr431Ser
ENST00000392793.5:c.1291A>T (TECTA) ENSP00000376543.1:p.Thr431Ser
NM_005422.2:c.1291A>T (TECTA) NP_005413.2:p.Thr431Ser
NM_001378761.1:c.2248A>T (TBCEL-TECTA) NP_001365690.1:p.Thr750Ser
NM_005422.4:c.1291A>T (TECTA) MANE Select NP_005413.2:p.Thr431Ser
Search 100 bp 5'
Search 100 bp 3'