Canonical Allele Identifier: CA6327292
Gene: TECTA HGNC NCBI
TBCEL-TECTA HGNC NCBI

Linked Data

dbSNP Id: rs761832698
ExAC: 11:121016533 G / A
gnomAD v2: 11-121016533-G-A
gnomAD v4: 11-121145824-G-A
MyVariant Identifiers: chr11:g.121016533G>A (hg19) chr11:g.121145824G>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.121145824G>A , CM000673.2:g.121145824G>A GRCh38
NC_000011.9:g.121016533G>A , CM000673.1:g.121016533G>A GRCh37
NC_000011.8:g.120521743G>A NCBI36
NG_011633.1:g.48159G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000392793.6:c.3813G>A (TECTA) MANE Select ENSP00000376543.1:p.Val1271=
ENST00000642222.1:c.3813G>A (TECTA) ENSP00000493855.1:p.Val1271=
ENST00000645008.1:c.1120G>A (TECTA)
ENST00000264037.2:c.3813G>A (TECTA) ENSP00000264037.2:p.Val1271=
ENST00000392793.5:c.3813G>A (TECTA) ENSP00000376543.1:p.Val1271=
ENST00000478058.1:n.378G>A (TECTA)
NM_005422.2:c.3813G>A (TECTA) NP_005413.2:p.Val1271=
NM_001378761.1:c.4770G>A (TBCEL-TECTA) NP_001365690.1:p.Val1590=
NM_005422.4:c.3813G>A (TECTA) MANE Select NP_005413.2:p.Val1271=
Search 100 bp 5'
Search 100 bp 3'