Canonical Allele Identifier: CA477384124
Gene: TECTA HGNC NCBI
TBCEL-TECTA HGNC NCBI

Linked Data

dbSNP Id: rs1947005971
MyVariant Identifiers: chr11:g.121032811G>A (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.121162102G>A , CM000673.2:g.121162102G>A GRCh38
NC_000011.9:g.121032811G>A , CM000673.1:g.121032811G>A GRCh37
NC_000011.8:g.120538021G>A NCBI36
NG_011633.1:g.64437G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000392793.6:c.5004G>A (TECTA) MANE Select ENSP00000376543.1:p.Leu1668=
ENST00000642222.1:c.4989G>A (TECTA) ENSP00000493855.1:p.Leu1663=
ENST00000645008.1:c.2296G>A (TECTA)
ENST00000646278.1:n.925G>A (TECTA)
ENST00000264037.2:c.5004G>A (TECTA) ENSP00000264037.2:p.Leu1668=
ENST00000392793.5:c.5004G>A (TECTA) ENSP00000376543.1:p.Leu1668=
NM_005422.2:c.5004G>A (TECTA) NP_005413.2:p.Leu1668=
NM_001378761.1:c.5946G>A (TBCEL-TECTA) NP_001365690.1:p.Leu1982=
NM_005422.4:c.5004G>A (TECTA) MANE Select NP_005413.2:p.Leu1668=