Canonical Allele Identifier: CA1072502719
Gene: TERT HGNC NCBI

Linked Data

dbSNP Id: rs1750496223
gnomAD v3: 5-1286487-G-A
gnomAD v4: 5-1286487-G-A

Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.1286487G>A , CM000667.2:g.1286487G>A GRCh38
NC_000005.9:g.1286602G>A , CM000667.1:g.1286602G>A GRCh37
NC_000005.8:g.1339602G>A NCBI36
NG_009265.1:g.13561C>T , LRG_343:g.13561C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000310581.10:c.1574-3863C>T MANE Select ENSP00000309572.5:n.1574-3863C>T
ENST00000656021.1:c.*797C>T ENSP00000499759.1:n.*797C>T
ENST00000310581.9:c.1574-3863C>T ENSP00000309572.5:n.1574-3863C>T
ENST00000334602.10:c.1574-3863C>T ENSP00000334346.6:n.1574-3863C>T
ENST00000460137.6:c.1574-3863C>T ENSP00000425003.1:n.1574-3863C>T
ENST00000508104.2:c.1574-3863C>T ENSP00000426042.2:n.1574-3863C>T
NM_001193376.1:c.1574-3863C>T NP_001180305.1:n.1574-3863C>T
NM_198253.2:c.1574-3863C>T , LRG_343t1:c.1574-3863C>T NP_937983.2:n.1574-3863C>T
XM_011514104.1:c.-280C>T XP_011512406.1:n.-280C>T
XM_011514105.1:c.-435C>T XP_011512407.1:n.-435C>T
NR_149162.1:n.1632-3863C>T
NR_149163.1:n.1632-3863C>T
NM_001193376.2:c.1574-3863C>T NP_001180305.1:n.1574-3863C>T
NM_198253.3:c.1574-3863C>T MANE Select NP_937983.2:n.1574-3863C>T
NR_149162.2:n.1653-3863C>T
NR_149163.2:n.1653-3863C>T
NM_001193376.3:c.1574-3863C>T NP_001180305.1:n.1574-3863C>T
NR_149162.3:n.1653-3863C>T
NR_149163.3:n.1653-3863C>T