Canonical Allele Identifier: CA6327888

Gene: TECTA TBCEL-TECTA

Linked Data

• ClinVar Variation Id: 303044
• ClinVar RCV Id: RCV000275393 ; RCV000368155 ; RCV001551076
• dbSNP Id: rs769561057
• ExAC: 11:121058677 G / A
• gnomAD v2: 11-121058677-G-A
• gnomAD v3: 11-121187968-G-A
• gnomAD v4: 11-121187968-G-A
• MyVariant Identifiers: chr11:g.121058677G>A (hg19) ; chr11:g.121187968G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.121187968G>A , CM000673.2:g.121187968G>A	GRCh38
NC_000011.9:g.121058677G>A , CM000673.1:g.121058677G>A	GRCh37
NC_000011.8:g.120563887G>A	NCBI36
NG_011633.1:g.90303G>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000392793.6:c.6136G>A (TECTA) MANE Select	ENSP00000376543.1:p.Asp2046Asn
ENST00000642222.1:c.6121G>A (TECTA)	ENSP00000493855.1:p.Asp2041Asn
ENST00000645008.1:c.3428G>A (TECTA)
ENST00000646278.1:n.2516G>A (TECTA)
ENST00000264037.2:c.6136G>A (TECTA)	ENSP00000264037.2:p.Asp2046Asn
ENST00000392793.5:c.6136G>A (TECTA)	ENSP00000376543.1:p.Asp2046Asn
NM_005422.2:c.6136G>A (TECTA)	NP_005413.2:p.Asp2046Asn
NM_001378761.1:c.7078G>A (TBCEL-TECTA)	NP_001365690.1:p.Asp2360Asn
NM_005422.4:c.6136G>A (TECTA) MANE Select	NP_005413.2:p.Asp2046Asn