Canonical Allele Identifier: CA477384112
Gene: TECTA HGNC NCBI
TBCEL-TECTA HGNC NCBI

Linked Data

dbSNP Id: rs1253327754

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.121162084C>A , CM000673.2:g.121162084C>A GRCh38
NC_000011.9:g.121032793C>A , CM000673.1:g.121032793C>A GRCh37
NC_000011.8:g.120538003C>A NCBI36
NG_011633.1:g.64419C>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000392793.6:c.4986C>A (TECTA) MANE Select ENSP00000376543.1:p.Ala1662=
ENST00000642222.1:c.4977-6C>A (TECTA) ENSP00000493855.1:n.4977-6C>A
ENST00000645008.1:c.2284-6C>A (TECTA)
ENST00000646278.1:n.913-6C>A (TECTA)
ENST00000264037.2:c.4986C>A (TECTA) ENSP00000264037.2:p.Ala1662=
ENST00000392793.5:c.4986C>A (TECTA) ENSP00000376543.1:p.Ala1662=
NM_005422.2:c.4986C>A (TECTA) NP_005413.2:p.Ala1662=
NM_001378761.1:c.5934-6C>A (TBCEL-TECTA) NP_001365690.1:n.5934-6C>A
NM_005422.4:c.4986C>A (TECTA) MANE Select NP_005413.2:p.Ala1662=