Canonical Allele Identifier: CA6327406
Gene: TECTA HGNC NCBI
TBCEL-TECTA HGNC NCBI

Linked Data

ClinVar Variation Id: 303024
ClinVar RCV Id: RCV000304659 RCV000401668
dbSNP Id: rs770316975
ExAC: 11:121023773 A / G
gnomAD v2: 11-121023773-A-G
gnomAD v3: 11-121153064-A-G
gnomAD v4: 11-121153064-A-G
MyVariant Identifiers: chr11:g.121023773A>G (hg19) chr11:g.121153064A>G (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.121153064A>G , CM000673.2:g.121153064A>G GRCh38
NC_000011.9:g.121023773A>G , CM000673.1:g.121023773A>G GRCh37
NC_000011.8:g.120528983A>G NCBI36
NG_011633.1:g.55399A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000392793.6:c.4289A>G (TECTA) MANE Select ENSP00000376543.1:p.Asp1430Gly
ENST00000642222.1:c.4289A>G (TECTA) ENSP00000493855.1:p.Asp1430Gly
ENST00000645008.1:c.1596A>G (TECTA)
ENST00000646278.1:n.225A>G (TECTA)
ENST00000264037.2:c.4289A>G (TECTA) ENSP00000264037.2:p.Asp1430Gly
ENST00000392793.5:c.4289A>G (TECTA) ENSP00000376543.1:p.Asp1430Gly
NM_005422.2:c.4289A>G (TECTA) NP_005413.2:p.Asp1430Gly
NM_001378761.1:c.5246A>G (TBCEL-TECTA) NP_001365690.1:p.Asp1749Gly
NM_005422.4:c.4289A>G (TECTA) MANE Select NP_005413.2:p.Asp1430Gly
Search 100 bp 5'
Search 100 bp 3'