Canonical Allele Identifier: CA6327037

Gene: TECTA TBCEL-TECTA

Linked Data

• ClinVar Variation Id: 229296
• ClinVar RCV Id: RCV000219728 ; RCV001103540 ; RCV001108703 ; RCV002500716 ; RCV001582738
• dbSNP Id: rs146175803
• ExAC: 11:121000636 A / G
• gnomAD v2: 11-121000636-A-G
• gnomAD v3: 11-121129927-A-G
• gnomAD v4: 11-121129927-A-G
• COSMIC: COSM146002
• MyVariant Identifiers: chr11:g.121000636A>G (hg19) ; chr11:g.121129927A>G (hg38)
• PubMed: PMID:21520338 ; PMID:25262649

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.121129927A>G , CM000673.2:g.121129927A>G	GRCh38
NC_000011.9:g.121000636A>G , CM000673.1:g.121000636A>G	GRCh37
NC_000011.8:g.120505846A>G	NCBI36
NG_011633.1:g.32262A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000392793.6:c.2657A>G (TECTA) MANE Select	ENSP00000376543.1:p.Asn886Ser
ENST00000642222.1:c.2657A>G (TECTA)	ENSP00000493855.1:p.Asn886Ser
ENST00000264037.2:c.2657A>G (TECTA)	ENSP00000264037.2:p.Asn886Ser
ENST00000392793.5:c.2657A>G (TECTA)	ENSP00000376543.1:p.Asn886Ser
NM_005422.2:c.2657A>G (TECTA)	NP_005413.2:p.Asn886Ser
NM_001378761.1:c.3614A>G (TBCEL-TECTA)	NP_001365690.1:p.Asn1205Ser
NM_005422.4:c.2657A>G (TECTA) MANE Select	NP_005413.2:p.Asn886Ser