Canonical Allele Identifier: CA2004743826

Gene: TECTA TBCEL-TECTA

Linked Data

• dbSNP Id: rs1591461520

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.121162519G>C , CM000673.2:g.121162519G>C	GRCh38
NC_000011.9:g.121033228G>C , CM000673.1:g.121033228G>C	GRCh37
NC_000011.8:g.120538438G>C	NCBI36
NG_011633.1:g.64854G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000392793.6:c.5272+149G>C (TECTA) MANE Select	ENSP00000376543.1:n.5272+149G>C
ENST00000642222.1:c.5257+149G>C (TECTA)	ENSP00000493855.1:n.5257+149G>C
ENST00000645008.1:c.2564+149G>C (TECTA)
ENST00000646278.1:n.1193+149G>C (TECTA)
ENST00000264037.2:c.5272+149G>C (TECTA)	ENSP00000264037.2:n.5272+149G>C
ENST00000392793.5:c.5272+149G>C (TECTA)	ENSP00000376543.1:n.5272+149G>C
NM_005422.2:c.5272+149G>C (TECTA)	NP_005413.2:n.5272+149G>C
NM_001378761.1:c.6214+149G>C (TBCEL-TECTA)	NP_001365690.1:n.6214+149G>C
NM_005422.4:c.5272+149G>C (TECTA) MANE Select	NP_005413.2:n.5272+149G>C