Canonical Allele Identifier: CA1072505285
Gene: TERT HGNC NCBI

Linked Data

gnomAD v3: 5-1275341-T-A
gnomAD v4: 5-1275341-T-A

Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.1275341T>A , CM000667.2:g.1275341T>A GRCh38
NC_000005.9:g.1275456T>A , CM000667.1:g.1275456T>A GRCh37
NC_000005.8:g.1328456T>A NCBI36
NG_009265.1:g.24707A>T , LRG_343:g.24707A>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000310581.10:c.2287-3061A>T MANE Select ENSP00000309572.5:n.2287-3061A>T
ENST00000656021.1:c.*1833-3061A>T ENSP00000499759.1:n.*1833-3061A>T
ENST00000310581.9:c.2287-3061A>T ENSP00000309572.5:n.2287-3061A>T
ENST00000334602.10:c.2287-3061A>T ENSP00000334346.6:n.2287-3061A>T
ENST00000460137.6:c.2250+3300A>T ENSP00000425003.1:n.2250+3300A>T
ENST00000484238.6:n.1099+3300A>T
ENST00000508104.2:c.2286+3300A>T ENSP00000426042.2:n.2286+3300A>T
NM_001193376.1:c.2287-3061A>T NP_001180305.1:n.2287-3061A>T
NM_198253.2:c.2287-3061A>T , LRG_343t1:c.2287-3061A>T NP_937983.2:n.2287-3061A>T
XM_011514104.1:c.757-3061A>T XP_011512406.1:n.757-3061A>T
XM_011514105.1:c.643-3061A>T XP_011512407.1:n.643-3061A>T
XM_011514106.1:c.643-3061A>T XP_011512408.1:n.643-3061A>T
NR_149162.1:n.2344+3300A>T
NR_149163.1:n.2308+3300A>T
NM_001193376.2:c.2287-3061A>T NP_001180305.1:n.2287-3061A>T
NM_198253.3:c.2287-3061A>T MANE Select NP_937983.2:n.2287-3061A>T
NR_149162.2:n.2365+3300A>T
NR_149163.2:n.2329+3300A>T
NM_001193376.3:c.2287-3061A>T NP_001180305.1:n.2287-3061A>T
NR_149162.3:n.2365+3300A>T
NR_149163.3:n.2329+3300A>T