Canonical Allele Identifier: CA359066534
Community Standard Title: NM_198253.3(TERT):c.3373T>G (p.Ser1125Ala)
Gene: TERT HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.1253754A>C , CM000667.2:g.1253754A>C GRCh38
NC_000005.9:g.1253869A>C , CM000667.1:g.1253869A>C GRCh37
NC_000005.8:g.1306869A>C NCBI36
NG_009265.1:g.46294T>G , LRG_343:g.46294T>G

Transcript Alleles

HGVS Amino-acid Change
NM_198253.3:c.3373T>G MANE Select NP_937983.2:p.Ser1125Ala
ENST00000310581.10:c.3373T>G MANE Select ENSP00000309572.5:p.Ser1125Ala
NM_001193376.1:c.3184T>G NP_001180305.1:p.Ser1062Ala
NM_001193376.2:c.3184T>G NP_001180305.1:p.Ser1062Ala
NM_001193376.3:c.3184T>G NP_001180305.1:p.Ser1062Ala
NM_198253.2:c.3373T>G , LRG_343t1:c.3373T>G NP_937983.2:p.Ser1125Ala
NR_149162.1:n.3060T>G
NR_149162.2:n.3081T>G
NR_149162.3:n.3081T>G
NR_149163.1:n.3024T>G
NR_149163.2:n.3045T>G
NR_149163.3:n.3045T>G
ENST00000310581.9:c.3373T>G ENSP00000309572.5:p.Ser1125Ala
ENST00000334602.10:c.3184T>G ENSP00000334346.6:p.Ser1062Ala
ENST00000460137.6:c.2966T>G ENSP00000425003.1:n.2966T>G
ENST00000484238.6:n.1815T>G
ENST00000656021.1:c.*2919T>G ENSP00000499759.1:n.*2919T>G
XM_011514104.1:c.1843T>G XP_011512406.1:p.Ser615Ala
XM_011514105.1:c.1729T>G XP_011512407.1:p.Ser577Ala
XM_011514106.1:c.1729T>G XP_011512408.1:p.Ser577Ala
XR_925683.1:n.287-920A>C