Canonical Allele Identifier: CA2673080521
Gene: TERT HGNC NCBI

Linked Data

gnomAD v4: 5-1293166-G-C

Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.1293166G>C , CM000667.2:g.1293166G>C GRCh38
NC_000005.9:g.1293281G>C , CM000667.1:g.1293281G>C GRCh37
NC_000005.8:g.1346281G>C NCBI36
NG_009265.1:g.6882C>G , LRG_343:g.6882C>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000310581.10:c.1573+147C>G MANE Select ENSP00000309572.5:n.1573+147C>G
ENST00000656021.1:c.1720C>G ENSP00000499759.1:p.Arg574Gly
ENST00000310581.9:c.1573+147C>G ENSP00000309572.5:n.1573+147C>G
ENST00000334602.10:c.1573+147C>G ENSP00000334346.6:n.1573+147C>G
ENST00000460137.6:c.1573+147C>G ENSP00000425003.1:n.1573+147C>G
ENST00000508104.2:c.1573+147C>G ENSP00000426042.2:n.1573+147C>G
NM_001193376.1:c.1573+147C>G NP_001180305.1:n.1573+147C>G
NM_198253.2:c.1573+147C>G , LRG_343t1:c.1573+147C>G NP_937983.2:n.1573+147C>G
NR_149162.1:n.1631+147C>G
NR_149163.1:n.1631+147C>G
NM_001193376.2:c.1573+147C>G NP_001180305.1:n.1573+147C>G
NM_198253.3:c.1573+147C>G MANE Select NP_937983.2:n.1573+147C>G
NR_149162.2:n.1652+147C>G
NR_149163.2:n.1652+147C>G
NM_001193376.3:c.1573+147C>G NP_001180305.1:n.1573+147C>G
NR_149162.3:n.1652+147C>G
NR_149163.3:n.1652+147C>G