Canonical Allele Identifier: CA3184862
Gene: TERT HGNC NCBI

Linked Data

ClinVar Variation Id: 471818
dbSNP Id: rs190411812
gnomAD v2: 5-1293732-G-A
gnomAD v3: 5-1293617-G-A
gnomAD v4: 5-1293617-G-A

Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.1293617G>A , CM000667.2:g.1293617G>A GRCh38
NC_000005.9:g.1293732G>A , CM000667.1:g.1293732G>A GRCh37
NC_000005.8:g.1346732G>A NCBI36
NG_009265.1:g.6431C>T , LRG_343:g.6431C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000310581.10:c.1269C>T MANE Select ENSP00000309572.5:p.Ala423=
ENST00000656021.1:c.1269C>T ENSP00000499759.1:p.Ala423=
ENST00000310581.9:c.1269C>T ENSP00000309572.5:p.Ala423=
ENST00000334602.10:c.1269C>T ENSP00000334346.6:p.Ala423=
ENST00000460137.6:c.1269C>T ENSP00000425003.1:p.Ala423=
ENST00000508104.2:c.1269C>T ENSP00000426042.2:p.Ala423=
NM_001193376.1:c.1269C>T NP_001180305.1:p.Ala423=
NM_198253.2:c.1269C>T , LRG_343t1:c.1269C>T NP_937983.2:p.Ala423=
NR_149162.1:n.1327C>T
NR_149163.1:n.1327C>T
NM_001193376.2:c.1269C>T NP_001180305.1:p.Ala423=
NM_198253.3:c.1269C>T MANE Select NP_937983.2:p.Ala423=
NR_149162.2:n.1348C>T
NR_149163.2:n.1348C>T
NM_001193376.3:c.1269C>T NP_001180305.1:p.Ala423=
NR_149162.3:n.1348C>T
NR_149163.3:n.1348C>T