Canonical Allele Identifier: CA383031491

Gene: TECTA TBCEL-TECTA

Linked Data

• dbSNP Id: rs1378732562
• gnomAD v4: 11-121162135-T-A
• MyVariant Identifiers: chr11:g.121032844T>A (hg19) ; chr11:g.121162135T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.121162135T>A , CM000673.2:g.121162135T>A	GRCh38
NC_000011.9:g.121032844T>A , CM000673.1:g.121032844T>A	GRCh37
NC_000011.8:g.120538054T>A	NCBI36
NG_011633.1:g.64470T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000392793.6:c.5037T>A (TECTA) MANE Select	ENSP00000376543.1:p.Asn1679Lys
ENST00000642222.1:c.5022T>A (TECTA)	ENSP00000493855.1:p.Asn1674Lys
ENST00000645008.1:c.2329T>A (TECTA)
ENST00000646278.1:n.958T>A (TECTA)
ENST00000264037.2:c.5037T>A (TECTA)	ENSP00000264037.2:p.Asn1679Lys
ENST00000392793.5:c.5037T>A (TECTA)	ENSP00000376543.1:p.Asn1679Lys
NM_005422.2:c.5037T>A (TECTA)	NP_005413.2:p.Asn1679Lys
NM_001378761.1:c.5979T>A (TBCEL-TECTA)	NP_001365690.1:p.Asn1993Lys
NM_005422.4:c.5037T>A (TECTA) MANE Select	NP_005413.2:p.Asn1679Lys