Canonical Allele Identifier: CA3185020
Gene: TERT HGNC NCBI

Linked Data

ClinVar Variation Id: 350805
dbSNP Id: rs573817924
gnomAD v2: 5-1294879-G-A
gnomAD v3: 5-1294764-G-A
gnomAD v4: 5-1294764-G-A

Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.1294764G>A , CM000667.2:g.1294764G>A GRCh38
NC_000005.9:g.1294879G>A , CM000667.1:g.1294879G>A GRCh37
NC_000005.8:g.1347879G>A NCBI36
NG_009265.1:g.5284C>T , LRG_343:g.5284C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000310581.10:c.219+7C>T MANE Select ENSP00000309572.5:n.219+7C>T
ENST00000656021.1:c.219+7C>T ENSP00000499759.1:n.219+7C>T
ENST00000310581.9:c.219+7C>T ENSP00000309572.5:n.219+7C>T
ENST00000334602.10:c.219+7C>T ENSP00000334346.6:n.219+7C>T
ENST00000460137.6:c.219+7C>T ENSP00000425003.1:n.219+7C>T
ENST00000508104.2:c.219+7C>T ENSP00000426042.2:n.219+7C>T
ENST00000522877.1:n.299+7C>T
NM_001193376.1:c.219+7C>T NP_001180305.1:n.219+7C>T
NM_198253.2:c.219+7C>T , LRG_343t1:c.219+7C>T NP_937983.2:n.219+7C>T
NR_149162.1:n.277+7C>T
NR_149163.1:n.277+7C>T
NM_001193376.2:c.219+7C>T NP_001180305.1:n.219+7C>T
NM_198253.3:c.219+7C>T MANE Select NP_937983.2:n.219+7C>T
NR_149162.2:n.298+7C>T
NR_149163.2:n.298+7C>T
NM_001193376.3:c.219+7C>T NP_001180305.1:n.219+7C>T
NR_149162.3:n.298+7C>T
NR_149163.3:n.298+7C>T