Canonical Allele Identifier: CA359055821
Gene: TERT HGNC NCBI

Linked Data

ClinVar Variation Id: 956943
dbSNP Id: rs1279397908
gnomAD v2: 5-1293958-C-T
gnomAD v3: 5-1293843-C-T
gnomAD v4: 5-1293843-C-T

Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.1293843C>T , CM000667.2:g.1293843C>T GRCh38
NC_000005.9:g.1293958C>T , CM000667.1:g.1293958C>T GRCh37
NC_000005.8:g.1346958C>T NCBI36
NG_009265.1:g.6205G>A , LRG_343:g.6205G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000310581.10:c.1043G>A MANE Select ENSP00000309572.5:p.Ser348Asn
ENST00000656021.1:c.1043G>A ENSP00000499759.1:p.Ser348Asn
ENST00000310581.9:c.1043G>A ENSP00000309572.5:p.Ser348Asn
ENST00000334602.10:c.1043G>A ENSP00000334346.6:p.Ser348Asn
ENST00000460137.6:c.1043G>A ENSP00000425003.1:p.Ser348Asn
ENST00000508104.2:c.1043G>A ENSP00000426042.2:p.Ser348Asn
NM_001193376.1:c.1043G>A NP_001180305.1:p.Ser348Asn
NM_198253.2:c.1043G>A , LRG_343t1:c.1043G>A NP_937983.2:p.Ser348Asn
NR_149162.1:n.1101G>A
NR_149163.1:n.1101G>A
NM_001193376.2:c.1043G>A NP_001180305.1:p.Ser348Asn
NM_198253.3:c.1043G>A MANE Select NP_937983.2:p.Ser348Asn
NR_149162.2:n.1122G>A
NR_149163.2:n.1122G>A
NM_001193376.3:c.1043G>A NP_001180305.1:p.Ser348Asn
NR_149162.3:n.1122G>A
NR_149163.3:n.1122G>A