Canonical Allele Identifier: CA3184914
Gene: TERT HGNC NCBI
MyVariant.info:
GRCh38 chr5:g.1294107C>T
GRCh37 chr5:g.1294222C>T
Revel Score:
ENST00000310581 (MANE Select) 0.564
ENST00000296820 0.564
ENST00000334602 0.564
ENST00000508104 0.564
gnomAD v2:
5:1294222 C / T
gnomAD v3:
5:1294107 C / T
gnomAD v4:
chr5-1294107-C-T
Joint Max Group AF 0.00023359 (AFR)
Genomes Max Group AF 0.00016659 (AFR)
Exomes Max Group AF 0.0002346 (AFR)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.1294107C>T , CM000667.2:g.1294107C>T GRCh38
NC_000005.9:g.1294222C>T , CM000667.1:g.1294222C>T GRCh37
NC_000005.8:g.1347222C>T NCBI36
NG_009265.1:g.5941G>A , LRG_343:g.5941G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000310581.10:c.779G>A MANE Select ENSP00000309572.5:p.Gly260Asp
ENST00000656021.1:c.779G>A ENSP00000499759.1:p.Gly260Asp
ENST00000310581.9:c.779G>A ENSP00000309572.5:p.Gly260Asp
ENST00000334602.10:c.779G>A ENSP00000334346.6:p.Gly260Asp
ENST00000460137.6:c.779G>A ENSP00000425003.1:p.Gly260Asp
ENST00000508104.2:c.779G>A ENSP00000426042.2:p.Gly260Asp
NM_001193376.1:c.779G>A NP_001180305.1:p.Gly260Asp
NM_198253.2:c.779G>A , LRG_343t1:c.779G>A NP_937983.2:p.Gly260Asp
NR_149162.1:n.837G>A
NR_149163.1:n.837G>A
NM_001193376.2:c.779G>A NP_001180305.1:p.Gly260Asp
NM_198253.3:c.779G>A MANE Select NP_937983.2:p.Gly260Asp
NR_149162.2:n.858G>A
NR_149163.2:n.858G>A
NM_001193376.3:c.779G>A NP_001180305.1:p.Gly260Asp
NR_149162.3:n.858G>A
NR_149163.3:n.858G>A
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