Canonical Allele Identifier: CA477384120

Gene: TECTA TBCEL-TECTA

Linked Data

• dbSNP Id: rs1395588056
• gnomAD v2: 11-121032808-G-A
• gnomAD v4: 11-121162099-G-A
• MyVariant Identifiers: chr11:g.121032808G>A (hg19) ; chr11:g.121162099G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.121162099G>A , CM000673.2:g.121162099G>A	GRCh38
NC_000011.9:g.121032808G>A , CM000673.1:g.121032808G>A	GRCh37
NC_000011.8:g.120538018G>A	NCBI36
NG_011633.1:g.64434G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000392793.6:c.5001G>A (TECTA) MANE Select	ENSP00000376543.1:p.Glu1667=
ENST00000642222.1:c.4986G>A (TECTA)	ENSP00000493855.1:p.Glu1662=
ENST00000645008.1:c.2293G>A (TECTA)
ENST00000646278.1:n.922G>A (TECTA)
ENST00000264037.2:c.5001G>A (TECTA)	ENSP00000264037.2:p.Glu1667=
ENST00000392793.5:c.5001G>A (TECTA)	ENSP00000376543.1:p.Glu1667=
NM_005422.2:c.5001G>A (TECTA)	NP_005413.2:p.Glu1667=
NM_001378761.1:c.5943G>A (TBCEL-TECTA)	NP_001365690.1:p.Glu1981=
NM_005422.4:c.5001G>A (TECTA) MANE Select	NP_005413.2:p.Glu1667=