Canonical Allele Identifier: CA383032119

Gene: TECTA TBCEL-TECTA

Linked Data

• dbSNP Id: rs1450032882
• gnomAD v2: 11-121032982-C-A
• gnomAD v4: 11-121162273-C-A
• MyVariant Identifiers: chr11:g.121032982C>A (hg19) ; chr11:g.121162273C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.121162273C>A , CM000673.2:g.121162273C>A	GRCh38
NC_000011.9:g.121032982C>A , CM000673.1:g.121032982C>A	GRCh37
NC_000011.8:g.120538192C>A	NCBI36
NG_011633.1:g.64608C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000392793.6:c.5175C>A (TECTA) MANE Select	ENSP00000376543.1:p.His1725Gln
ENST00000642222.1:c.5160C>A (TECTA)	ENSP00000493855.1:p.His1720Gln
ENST00000645008.1:c.2467C>A (TECTA)
ENST00000646278.1:n.1096C>A (TECTA)
ENST00000264037.2:c.5175C>A (TECTA)	ENSP00000264037.2:p.His1725Gln
ENST00000392793.5:c.5175C>A (TECTA)	ENSP00000376543.1:p.His1725Gln
NM_005422.2:c.5175C>A (TECTA)	NP_005413.2:p.His1725Gln
NM_001378761.1:c.6117C>A (TBCEL-TECTA)	NP_001365690.1:p.His2039Gln
NM_005422.4:c.5175C>A (TECTA) MANE Select	NP_005413.2:p.His1725Gln