Canonical Allele Identifier: CA2673079531
Gene: TERT HGNC NCBI

Linked Data

gnomAD v4: 5-1279518-G-T

Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.1279518G>T , CM000667.2:g.1279518G>T GRCh38
NC_000005.9:g.1279633G>T , CM000667.1:g.1279633G>T GRCh37
NC_000005.8:g.1332633G>T NCBI36
NG_009265.1:g.20530C>A , LRG_343:g.20530C>A

Transcript Alleles

HGVS Amino-acid change
ENST00000310581.10:c.1951-48C>A MANE Select ENSP00000309572.5:n.1951-48C>A
ENST00000656021.1:c.*1497-48C>A ENSP00000499759.1:n.*1497-48C>A
ENST00000310581.9:c.1951-48C>A ENSP00000309572.5:n.1951-48C>A
ENST00000334602.10:c.1951-48C>A ENSP00000334346.6:n.1951-48C>A
ENST00000460137.6:c.1951-48C>A ENSP00000425003.1:n.1951-48C>A
ENST00000484238.6:n.764-48C>A
ENST00000508104.2:c.1951-48C>A ENSP00000426042.2:n.1951-48C>A
NM_001193376.1:c.1951-48C>A NP_001180305.1:n.1951-48C>A
NM_198253.2:c.1951-48C>A , LRG_343t1:c.1951-48C>A NP_937983.2:n.1951-48C>A
XM_011514104.1:c.421-48C>A XP_011512406.1:n.421-48C>A
XM_011514105.1:c.307-48C>A XP_011512407.1:n.307-48C>A
XM_011514106.1:c.307-48C>A XP_011512408.1:n.307-48C>A
NR_149162.1:n.2009-48C>A
NR_149163.1:n.2009-48C>A
NM_001193376.2:c.1951-48C>A NP_001180305.1:n.1951-48C>A
NM_198253.3:c.1951-48C>A MANE Select NP_937983.2:n.1951-48C>A
NR_149162.2:n.2030-48C>A
NR_149163.2:n.2030-48C>A
NM_001193376.3:c.1951-48C>A NP_001180305.1:n.1951-48C>A
NR_149162.3:n.2030-48C>A
NR_149163.3:n.2030-48C>A