Canonical Allele Identifier: CA112957386
Gene: TERT HGNC NCBI

Linked Data

dbSNP Id: rs757727480
gnomAD v3: 5-1293201-T-C
gnomAD v4: 5-1293201-T-C

Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.1293201T>C , CM000667.2:g.1293201T>C GRCh38
NC_000005.9:g.1293316T>C , CM000667.1:g.1293316T>C GRCh37
NC_000005.8:g.1346316T>C NCBI36
NG_009265.1:g.6847A>G , LRG_343:g.6847A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000310581.10:c.1573+112A>G MANE Select ENSP00000309572.5:n.1573+112A>G
ENST00000656021.1:c.1685A>G ENSP00000499759.1:p.His562Arg
ENST00000310581.9:c.1573+112A>G ENSP00000309572.5:n.1573+112A>G
ENST00000334602.10:c.1573+112A>G ENSP00000334346.6:n.1573+112A>G
ENST00000460137.6:c.1573+112A>G ENSP00000425003.1:n.1573+112A>G
ENST00000508104.2:c.1573+112A>G ENSP00000426042.2:n.1573+112A>G
NM_001193376.1:c.1573+112A>G NP_001180305.1:n.1573+112A>G
NM_198253.2:c.1573+112A>G , LRG_343t1:c.1573+112A>G NP_937983.2:n.1573+112A>G
NR_149162.1:n.1631+112A>G
NR_149163.1:n.1631+112A>G
NM_001193376.2:c.1573+112A>G NP_001180305.1:n.1573+112A>G
NM_198253.3:c.1573+112A>G MANE Select NP_937983.2:n.1573+112A>G
NR_149162.2:n.1652+112A>G
NR_149163.2:n.1652+112A>G
NM_001193376.3:c.1573+112A>G NP_001180305.1:n.1573+112A>G
NR_149162.3:n.1652+112A>G
NR_149163.3:n.1652+112A>G