Canonical Allele Identifier: CA6327832
Gene: TECTA HGNC NCBI
TBCEL-TECTA HGNC NCBI

Linked Data

dbSNP Id: rs202104412
ExAC: 11:121039475 G / A
gnomAD v2: 11-121039475-G-A
gnomAD v3: 11-121168766-G-A
gnomAD v4: 11-121168766-G-A
MyVariant Identifiers: chr11:g.121039475G>A (hg19) chr11:g.121168766G>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.121168766G>A , CM000673.2:g.121168766G>A GRCh38
NC_000011.9:g.121039475G>A , CM000673.1:g.121039475G>A GRCh37
NC_000011.8:g.120544685G>A NCBI36
NG_011633.1:g.71101G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000392793.6:c.5840G>A (TECTA) MANE Select ENSP00000376543.1:p.Arg1947His
ENST00000642222.1:c.5825G>A (TECTA) ENSP00000493855.1:p.Arg1942His
ENST00000645008.1:c.3132G>A (TECTA)
ENST00000646278.1:n.2220G>A (TECTA)
ENST00000264037.2:c.5840G>A (TECTA) ENSP00000264037.2:p.Arg1947His
ENST00000392793.5:c.5840G>A (TECTA) ENSP00000376543.1:p.Arg1947His
NM_005422.2:c.5840G>A (TECTA) NP_005413.2:p.Arg1947His
NM_001378761.1:c.6782G>A (TBCEL-TECTA) NP_001365690.1:p.Arg2261His
NM_005422.4:c.5840G>A (TECTA) MANE Select NP_005413.2:p.Arg1947His
Search 100 bp 5'
Search 100 bp 3'