Canonical Allele Identifier: CA383031364
Gene: TECTA HGNC NCBI
TBCEL-TECTA HGNC NCBI

Linked Data

ClinVar Variation Id: 2271162
ClinVar RCV Id: RCV002812543
dbSNP Id: rs1327434997
gnomAD v2: 11-121032818-T-C
MyVariant Identifiers: chr11:g.121032818T>C (hg19) chr11:g.121162109T>C (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.121162109T>C , CM000673.2:g.121162109T>C GRCh38
NC_000011.9:g.121032818T>C , CM000673.1:g.121032818T>C GRCh37
NC_000011.8:g.120538028T>C NCBI36
NG_011633.1:g.64444T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000392793.6:c.5011T>C (TECTA) MANE Select ENSP00000376543.1:p.Ser1671Pro
ENST00000642222.1:c.4996T>C (TECTA) ENSP00000493855.1:p.Ser1666Pro
ENST00000645008.1:c.2303T>C (TECTA)
ENST00000646278.1:n.932T>C (TECTA)
ENST00000264037.2:c.5011T>C (TECTA) ENSP00000264037.2:p.Ser1671Pro
ENST00000392793.5:c.5011T>C (TECTA) ENSP00000376543.1:p.Ser1671Pro
NM_005422.2:c.5011T>C (TECTA) NP_005413.2:p.Ser1671Pro
NM_001378761.1:c.5953T>C (TBCEL-TECTA) NP_001365690.1:p.Ser1985Pro
NM_005422.4:c.5011T>C (TECTA) MANE Select NP_005413.2:p.Ser1671Pro
Search 100 bp 5'
Search 100 bp 3'