Canonical Allele Identifier: CA672604520

Gene: TECTA TBCEL-TECTA

Linked Data

• dbSNP Id: rs1379082897
• gnomAD v3: 11-121161974-C-T
• gnomAD v4: 11-121161974-C-T
• MyVariant Identifiers: chr11:g.121032683C>T (hg19) ; chr11:g.121161974C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.121161974C>T , CM000673.2:g.121161974C>T	GRCh38
NC_000011.9:g.121032683C>T , CM000673.1:g.121032683C>T	GRCh37
NC_000011.8:g.120537893C>T	NCBI36
NG_011633.1:g.64309C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000392793.6:c.4977-101C>T (TECTA) MANE Select	ENSP00000376543.1:n.4977-101C>T
ENST00000642222.1:c.4977-116C>T (TECTA)	ENSP00000493855.1:n.4977-116C>T
ENST00000645008.1:c.2284-116C>T (TECTA)
ENST00000646278.1:n.913-116C>T (TECTA)
ENST00000264037.2:c.4977-101C>T (TECTA)	ENSP00000264037.2:n.4977-101C>T
ENST00000392793.5:c.4977-101C>T (TECTA)	ENSP00000376543.1:n.4977-101C>T
NM_005422.2:c.4977-101C>T (TECTA)	NP_005413.2:n.4977-101C>T
NM_001378761.1:c.5934-116C>T (TBCEL-TECTA)	NP_001365690.1:n.5934-116C>T
NM_005422.4:c.4977-101C>T (TECTA) MANE Select	NP_005413.2:n.4977-101C>T