Canonical Allele Identifier: CA3184953
Gene: TERT HGNC NCBI

Linked Data

ClinVar Variation Id: 350804
dbSNP Id: rs11952056
gnomAD v2: 5-1294429-C-G
gnomAD v3: 5-1294314-C-G
gnomAD v4: 5-1294314-C-G

Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.1294314C>G , CM000667.2:g.1294314C>G GRCh38
NC_000005.9:g.1294429C>G , CM000667.1:g.1294429C>G GRCh37
NC_000005.8:g.1347429C>G NCBI36
NG_009265.1:g.5734G>C , LRG_343:g.5734G>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000310581.10:c.572G>C MANE Select ENSP00000309572.5:p.Ser191Thr
ENST00000656021.1:c.572G>C ENSP00000499759.1:p.Ser191Thr
ENST00000310581.9:c.572G>C ENSP00000309572.5:p.Ser191Thr
ENST00000334602.10:c.572G>C ENSP00000334346.6:p.Ser191Thr
ENST00000460137.6:c.572G>C ENSP00000425003.1:p.Ser191Thr
ENST00000508104.2:c.572G>C ENSP00000426042.2:p.Ser191Thr
NM_001193376.1:c.572G>C NP_001180305.1:p.Ser191Thr
NM_198253.2:c.572G>C , LRG_343t1:c.572G>C NP_937983.2:p.Ser191Thr
NR_149162.1:n.630G>C
NR_149163.1:n.630G>C
NM_001193376.2:c.572G>C NP_001180305.1:p.Ser191Thr
NM_198253.3:c.572G>C MANE Select NP_937983.2:p.Ser191Thr
NR_149162.2:n.651G>C
NR_149163.2:n.651G>C
NM_001193376.3:c.572G>C NP_001180305.1:p.Ser191Thr
NR_149162.3:n.651G>C
NR_149163.3:n.651G>C