Canonical Allele Identifier: CA183103

Gene: TECTA TBCEL-TECTA

Linked Data

• ClinVar Variation Id: 178822
• ClinVar RCV Id: RCV000155594 ; RCV001108890 ; RCV001108891
• dbSNP Id: rs727504469
• ExAC: 11:121016489 G / A
• gnomAD v2: 11-121016489-G-A
• gnomAD v3: 11-121145780-G-A
• gnomAD v4: 11-121145780-G-A
• MyVariant Identifiers: chr11:g.121016489G>A (hg19) ; chr11:g.121145780G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.121145780G>A , CM000673.2:g.121145780G>A	GRCh38
NC_000011.9:g.121016489G>A , CM000673.1:g.121016489G>A	GRCh37
NC_000011.8:g.120521699G>A	NCBI36
NG_011633.1:g.48115G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000392793.6:c.3769G>A (TECTA) MANE Select	ENSP00000376543.1:p.Gly1257Ser
ENST00000642222.1:c.3769G>A (TECTA)	ENSP00000493855.1:p.Gly1257Ser
ENST00000645008.1:c.1076G>A (TECTA)
ENST00000264037.2:c.3769G>A (TECTA)	ENSP00000264037.2:p.Gly1257Ser
ENST00000392793.5:c.3769G>A (TECTA)	ENSP00000376543.1:p.Gly1257Ser
ENST00000478058.1:n.334G>A (TECTA)
NM_005422.2:c.3769G>A (TECTA)	NP_005413.2:p.Gly1257Ser
NM_001378761.1:c.4726G>A (TBCEL-TECTA)	NP_001365690.1:p.Gly1576Ser
NM_005422.4:c.3769G>A (TECTA) MANE Select	NP_005413.2:p.Gly1257Ser