Canonical Allele Identifier: CA1522545447
Gene: TERT HGNC NCBI

Linked Data

dbSNP Id: rs1748597531
gnomAD v4: 5-1266326-C-T

Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.1266326C>T , CM000667.2:g.1266326C>T GRCh38
NC_000005.9:g.1266441C>T , CM000667.1:g.1266441C>T GRCh37
NC_000005.8:g.1319441C>T NCBI36
NG_009265.1:g.33722G>A , LRG_343:g.33722G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000310581.10:c.2654+138G>A MANE Select ENSP00000309572.5:n.2654+138G>A
ENST00000656021.1:c.*2200+138G>A ENSP00000499759.1:n.*2200+138G>A
ENST00000310581.9:c.2654+138G>A ENSP00000309572.5:n.2654+138G>A
ENST00000334602.10:c.2654+138G>A ENSP00000334346.6:n.2654+138G>A
ENST00000460137.6:c.2436+138G>A ENSP00000425003.1:n.2436+138G>A
ENST00000484238.6:n.1285+138G>A
ENST00000503656.1:n.61+138G>A
NM_001193376.1:c.2654+138G>A NP_001180305.1:n.2654+138G>A
NM_198253.2:c.2654+138G>A , LRG_343t1:c.2654+138G>A NP_937983.2:n.2654+138G>A
XM_011514104.1:c.1124+138G>A XP_011512406.1:n.1124+138G>A
XM_011514105.1:c.1010+138G>A XP_011512407.1:n.1010+138G>A
XM_011514106.1:c.1010+138G>A XP_011512408.1:n.1010+138G>A
NR_149162.1:n.2530+138G>A
NR_149163.1:n.2494+138G>A
NM_001193376.2:c.2654+138G>A NP_001180305.1:n.2654+138G>A
NM_198253.3:c.2654+138G>A MANE Select NP_937983.2:n.2654+138G>A
NR_149162.2:n.2551+138G>A
NR_149163.2:n.2515+138G>A
NM_001193376.3:c.2654+138G>A NP_001180305.1:n.2654+138G>A
NR_149162.3:n.2551+138G>A
NR_149163.3:n.2515+138G>A