Canonical Allele Identifier: CA477383261

Gene: TECTA TBCEL-TECTA

Linked Data

• gnomAD v4: 11-121146088-G-T
• MyVariant Identifiers: chr11:g.121016797G>T (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.121146088G>T , CM000673.2:g.121146088G>T	GRCh38
NC_000011.9:g.121016797G>T , CM000673.1:g.121016797G>T	GRCh37
NC_000011.8:g.120522007G>T	NCBI36
NG_011633.1:g.48423G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000392793.6:c.4077G>T (TECTA) MANE Select	ENSP00000376543.1:p.Val1359=
ENST00000642222.1:c.4077G>T (TECTA)	ENSP00000493855.1:p.Val1359=
ENST00000645008.1:c.1384G>T (TECTA)
ENST00000646278.1:n.13G>T (TECTA)
ENST00000264037.2:c.4077G>T (TECTA)	ENSP00000264037.2:p.Val1359=
ENST00000392793.5:c.4077G>T (TECTA)	ENSP00000376543.1:p.Val1359=
ENST00000478058.1:n.642G>T (TECTA)
NM_005422.2:c.4077G>T (TECTA)	NP_005413.2:p.Val1359=
NM_001378761.1:c.5034G>T (TBCEL-TECTA)	NP_001365690.1:p.Val1678=
NM_005422.4:c.4077G>T (TECTA) MANE Select	NP_005413.2:p.Val1359=