Canonical Allele Identifier: CA112957772

Gene: TERT

Linked Data

• ClinVar Variation Id: 704175
• ClinVar RCV Id: RCV002363288 ; RCV003103880
• dbSNP Id: rs766229902
• gnomAD v2: 5-1293765-G-A
• gnomAD v3: 5-1293650-G-A
• gnomAD v4: 5-1293650-G-A
• MyVariant Identifiers: chr5:g.1293765G>A (hg19) ; chr5:g.1293650G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.1293650G>A , CM000667.2:g.1293650G>A	GRCh38
NC_000005.9:g.1293765G>A , CM000667.1:g.1293765G>A	GRCh37
NC_000005.8:g.1346765G>A	NCBI36
NG_009265.1:g.6398C>T , LRG_343:g.6398C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000310581.10:c.1236C>T MANE Select	ENSP00000309572.5:p.His412=
ENST00000656021.1:c.1236C>T	ENSP00000499759.1:p.His412=
ENST00000310581.9:c.1236C>T	ENSP00000309572.5:p.His412=
ENST00000334602.10:c.1236C>T	ENSP00000334346.6:p.His412=
ENST00000460137.6:c.1236C>T	ENSP00000425003.1:p.His412=
ENST00000508104.2:c.1236C>T	ENSP00000426042.2:p.His412=
NM_001193376.1:c.1236C>T	NP_001180305.1:p.His412=
NM_198253.2:c.1236C>T , LRG_343t1:c.1236C>T	NP_937983.2:p.His412=
NR_149162.1:n.1294C>T
NR_149163.1:n.1294C>T
NM_001193376.2:c.1236C>T	NP_001180305.1:p.His412=
NM_198253.3:c.1236C>T MANE Select	NP_937983.2:p.His412=
NR_149162.2:n.1315C>T
NR_149163.2:n.1315C>T
NM_001193376.3:c.1236C>T	NP_001180305.1:p.His412=
NR_149162.3:n.1315C>T
NR_149163.3:n.1315C>T