Canonical Allele Identifier: CA803617234
Gene: TERT HGNC NCBI

Linked Data

dbSNP Id: rs1357155317
gnomAD v3: 5-1286566-T-A
gnomAD v4: 5-1286566-T-A

Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.1286566T>A , CM000667.2:g.1286566T>A GRCh38
NC_000005.9:g.1286681T>A , CM000667.1:g.1286681T>A GRCh37
NC_000005.8:g.1339681T>A NCBI36
NG_009265.1:g.13482A>T , LRG_343:g.13482A>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000310581.10:c.1574-3942A>T MANE Select ENSP00000309572.5:n.1574-3942A>T
ENST00000656021.1:c.*718A>T ENSP00000499759.1:n.*718A>T
ENST00000310581.9:c.1574-3942A>T ENSP00000309572.5:n.1574-3942A>T
ENST00000334602.10:c.1574-3942A>T ENSP00000334346.6:n.1574-3942A>T
ENST00000460137.6:c.1574-3942A>T ENSP00000425003.1:n.1574-3942A>T
ENST00000508104.2:c.1574-3942A>T ENSP00000426042.2:n.1574-3942A>T
NM_001193376.1:c.1574-3942A>T NP_001180305.1:n.1574-3942A>T
NM_198253.2:c.1574-3942A>T , LRG_343t1:c.1574-3942A>T NP_937983.2:n.1574-3942A>T
XM_011514104.1:c.-359A>T XP_011512406.1:n.-359A>T
XM_011514105.1:c.-514A>T XP_011512407.1:n.-514A>T
NR_149162.1:n.1632-3942A>T
NR_149163.1:n.1632-3942A>T
NM_001193376.2:c.1574-3942A>T NP_001180305.1:n.1574-3942A>T
NM_198253.3:c.1574-3942A>T MANE Select NP_937983.2:n.1574-3942A>T
NR_149162.2:n.1653-3942A>T
NR_149163.2:n.1653-3942A>T
NM_001193376.3:c.1574-3942A>T NP_001180305.1:n.1574-3942A>T
NR_149162.3:n.1653-3942A>T
NR_149163.3:n.1653-3942A>T