Canonical Allele Identifier: CA229811812
Gene: TECTA HGNC NCBI
TBCEL-TECTA HGNC NCBI

Linked Data

dbSNP Id: rs1032030939
gnomAD v2: 11-120996278-C-T
gnomAD v3: 11-121125569-C-T
gnomAD v4: 11-121125569-C-T
COSMIC: COSM202485
MyVariant Identifiers: chr11:g.120996278C>T (hg19) chr11:g.121125569C>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.121125569C>T , CM000673.2:g.121125569C>T GRCh38
NC_000011.9:g.120996278C>T , CM000673.1:g.120996278C>T GRCh37
NC_000011.8:g.120501488C>T NCBI36
NG_011633.1:g.27904C>T

Transcript Alleles

HGVS Amino-acid change
ENST00000392793.6:c.1471C>T (TECTA) MANE Select ENSP00000376543.1:p.Arg491Cys
ENST00000642222.1:c.1471C>T (TECTA) ENSP00000493855.1:p.Arg491Cys
ENST00000264037.2:c.1471C>T (TECTA) ENSP00000264037.2:p.Arg491Cys
ENST00000392793.5:c.1471C>T (TECTA) ENSP00000376543.1:p.Arg491Cys
NM_005422.2:c.1471C>T (TECTA) NP_005413.2:p.Arg491Cys
NM_001378761.1:c.2428C>T (TBCEL-TECTA) NP_001365690.1:p.Arg810Cys
NM_005422.4:c.1471C>T (TECTA) MANE Select NP_005413.2:p.Arg491Cys
Search 100 bp 5'
Search 100 bp 3'