Canonical Allele Identifier: CA183103
Gene: TECTA HGNC NCBI
TBCEL-TECTA HGNC NCBI

Linked Data

ClinVar Variation Id: 178822
ClinVar RCV Id: RCV000155594 RCV001108890 RCV001108891
dbSNP Id: rs727504469
ExAC: 11:121016489 G / A
gnomAD v2: 11-121016489-G-A
gnomAD v3: 11-121145780-G-A
gnomAD v4: 11-121145780-G-A
MyVariant Identifiers: chr11:g.121016489G>A (hg19) chr11:g.121145780G>A (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.121145780G>A , CM000673.2:g.121145780G>A GRCh38
NC_000011.9:g.121016489G>A , CM000673.1:g.121016489G>A GRCh37
NC_000011.8:g.120521699G>A NCBI36
NG_011633.1:g.48115G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000392793.6:c.3769G>A (TECTA) MANE Select ENSP00000376543.1:p.Gly1257Ser
ENST00000642222.1:c.3769G>A (TECTA) ENSP00000493855.1:p.Gly1257Ser
ENST00000645008.1:c.1076G>A (TECTA)
ENST00000264037.2:c.3769G>A (TECTA) ENSP00000264037.2:p.Gly1257Ser
ENST00000392793.5:c.3769G>A (TECTA) ENSP00000376543.1:p.Gly1257Ser
ENST00000478058.1:n.334G>A (TECTA)
NM_005422.2:c.3769G>A (TECTA) NP_005413.2:p.Gly1257Ser
NM_001378761.1:c.4726G>A (TBCEL-TECTA) NP_001365690.1:p.Gly1576Ser
NM_005422.4:c.3769G>A (TECTA) MANE Select NP_005413.2:p.Gly1257Ser
Search 100 bp 5'
Search 100 bp 3'