Canonical Allele Identifier: CA3184905
Gene: TERT HGNC NCBI

Linked Data

ClinVar Variation Id: 228007
dbSNP Id: rs375423906
gnomAD v2: 5-1294167-G-T
gnomAD v3: 5-1294052-G-T
gnomAD v4: 5-1294052-G-T

Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.1294052G>T , CM000667.2:g.1294052G>T GRCh38
NC_000005.9:g.1294167G>T , CM000667.1:g.1294167G>T GRCh37
NC_000005.8:g.1347167G>T NCBI36
NG_009265.1:g.5996C>A , LRG_343:g.5996C>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000310581.10:c.834C>A MANE Select ENSP00000309572.5:p.Pro278=
ENST00000656021.1:c.834C>A ENSP00000499759.1:p.Pro278=
ENST00000310581.9:c.834C>A ENSP00000309572.5:p.Pro278=
ENST00000334602.10:c.834C>A ENSP00000334346.6:p.Pro278=
ENST00000460137.6:c.834C>A ENSP00000425003.1:p.Pro278=
ENST00000508104.2:c.834C>A ENSP00000426042.2:p.Pro278=
NM_001193376.1:c.834C>A NP_001180305.1:p.Pro278=
NM_198253.2:c.834C>A , LRG_343t1:c.834C>A NP_937983.2:p.Pro278=
NR_149162.1:n.892C>A
NR_149163.1:n.892C>A
NM_001193376.2:c.834C>A NP_001180305.1:p.Pro278=
NM_198253.3:c.834C>A MANE Select NP_937983.2:p.Pro278=
NR_149162.2:n.913C>A
NR_149163.2:n.913C>A
NM_001193376.3:c.834C>A NP_001180305.1:p.Pro278=
NR_149162.3:n.913C>A
NR_149163.3:n.913C>A