Canonical Allele Identifier: CA359056883
Gene: TERT HGNC NCBI

Linked Data

ClinVar Variation Id: 1056211
ClinVar RCV Id: RCV003103982
dbSNP Id: rs1172617636
gnomAD v2: 5-1294243-T-C
gnomAD v3: 5-1294128-T-C
gnomAD v4: 5-1294128-T-C

Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.1294128T>C , CM000667.2:g.1294128T>C GRCh38
NC_000005.9:g.1294243T>C , CM000667.1:g.1294243T>C GRCh37
NC_000005.8:g.1347243T>C NCBI36
NG_009265.1:g.5920A>G , LRG_343:g.5920A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000310581.10:c.758A>G MANE Select ENSP00000309572.5:p.Gln253Arg
ENST00000656021.1:c.758A>G ENSP00000499759.1:p.Gln253Arg
ENST00000310581.9:c.758A>G ENSP00000309572.5:p.Gln253Arg
ENST00000334602.10:c.758A>G ENSP00000334346.6:p.Gln253Arg
ENST00000460137.6:c.758A>G ENSP00000425003.1:p.Gln253Arg
ENST00000508104.2:c.758A>G ENSP00000426042.2:p.Gln253Arg
NM_001193376.1:c.758A>G NP_001180305.1:p.Gln253Arg
NM_198253.2:c.758A>G , LRG_343t1:c.758A>G NP_937983.2:p.Gln253Arg
NR_149162.1:n.816A>G
NR_149163.1:n.816A>G
NM_001193376.2:c.758A>G NP_001180305.1:p.Gln253Arg
NM_198253.3:c.758A>G MANE Select NP_937983.2:p.Gln253Arg
NR_149162.2:n.837A>G
NR_149163.2:n.837A>G
NM_001193376.3:c.758A>G NP_001180305.1:p.Gln253Arg
NR_149162.3:n.837A>G
NR_149163.3:n.837A>G