Canonical Allele Identifier: CA359086196
Gene: TERT HGNC NCBI

Linked Data

ClinVar Variation Id: 642955
dbSNP Id: rs1213914911
gnomAD v2: 5-1293678-C-A
gnomAD v3: 5-1293563-C-A
gnomAD v4: 5-1293563-C-A

Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.1293563C>A , CM000667.2:g.1293563C>A GRCh38
NC_000005.9:g.1293678C>A , CM000667.1:g.1293678C>A GRCh37
NC_000005.8:g.1346678C>A NCBI36
NG_009265.1:g.6485G>T , LRG_343:g.6485G>T

Transcript Alleles

HGVS Amino-acid change
ENST00000310581.10:c.1323G>T MANE Select ENSP00000309572.5:p.Glu441Asp
ENST00000656021.1:c.1323G>T ENSP00000499759.1:p.Glu441Asp
ENST00000310581.9:c.1323G>T ENSP00000309572.5:p.Glu441Asp
ENST00000334602.10:c.1323G>T ENSP00000334346.6:p.Glu441Asp
ENST00000460137.6:c.1323G>T ENSP00000425003.1:p.Glu441Asp
ENST00000508104.2:c.1323G>T ENSP00000426042.2:p.Glu441Asp
NM_001193376.1:c.1323G>T NP_001180305.1:p.Glu441Asp
NM_198253.2:c.1323G>T , LRG_343t1:c.1323G>T NP_937983.2:p.Glu441Asp
NR_149162.1:n.1381G>T
NR_149163.1:n.1381G>T
NM_001193376.2:c.1323G>T NP_001180305.1:p.Glu441Asp
NM_198253.3:c.1323G>T MANE Select NP_937983.2:p.Glu441Asp
NR_149162.2:n.1402G>T
NR_149163.2:n.1402G>T
NM_001193376.3:c.1323G>T NP_001180305.1:p.Glu441Asp
NR_149162.3:n.1402G>T
NR_149163.3:n.1402G>T