Canonical Allele Identifier: CA383032309

Gene: TECTA TBCEL-TECTA

Linked Data

• ClinVar Variation Id: 2633245
• ClinVar RCV Id: RCV003408457
• gnomAD v4: 11-121162341-G-A
• MyVariant Identifiers: chr11:g.121033050G>A (hg19) ; chr11:g.121162341G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.121162341G>A , CM000673.2:g.121162341G>A	GRCh38
NC_000011.9:g.121033050G>A , CM000673.1:g.121033050G>A	GRCh37
NC_000011.8:g.120538260G>A	NCBI36
NG_011633.1:g.64676G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000392793.6:c.5243G>A (TECTA) MANE Select	ENSP00000376543.1:p.Ser1748Asn
ENST00000642222.1:c.5228G>A (TECTA)	ENSP00000493855.1:p.Ser1743Asn
ENST00000645008.1:c.2535G>A (TECTA)
ENST00000646278.1:n.1164G>A (TECTA)
ENST00000264037.2:c.5243G>A (TECTA)	ENSP00000264037.2:p.Ser1748Asn
ENST00000392793.5:c.5243G>A (TECTA)	ENSP00000376543.1:p.Ser1748Asn
NM_005422.2:c.5243G>A (TECTA)	NP_005413.2:p.Ser1748Asn
NM_001378761.1:c.6185G>A (TBCEL-TECTA)	NP_001365690.1:p.Ser2062Asn
NM_005422.4:c.5243G>A (TECTA) MANE Select	NP_005413.2:p.Ser1748Asn