Canonical Allele Identifier: CA3184681
Community Standard Title: NM_198253.3(TERT):c.2051A>G (p.Asp684Gly)
Gene: TERT HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.1279370T>C , CM000667.2:g.1279370T>C GRCh38
NC_000005.9:g.1279485T>C , CM000667.1:g.1279485T>C GRCh37
NC_000005.8:g.1332485T>C NCBI36
NG_009265.1:g.20678A>G , LRG_343:g.20678A>G

Transcript Alleles

HGVS Amino-acid Change
NM_198253.3:c.2051A>G MANE Select NP_937983.2:p.Asp684Gly
ENST00000310581.10:c.2051A>G MANE Select ENSP00000309572.5:p.Asp684Gly
NM_001193376.1:c.2051A>G NP_001180305.1:p.Asp684Gly
NM_001193376.2:c.2051A>G NP_001180305.1:p.Asp684Gly
NM_001193376.3:c.2051A>G NP_001180305.1:p.Asp684Gly
NM_198253.2:c.2051A>G , LRG_343t1:c.2051A>G NP_937983.2:p.Asp684Gly
NR_149162.1:n.2109A>G
NR_149162.2:n.2130A>G
NR_149162.3:n.2130A>G
NR_149163.1:n.2109A>G
NR_149163.2:n.2130A>G
NR_149163.3:n.2130A>G
ENST00000310581.9:c.2051A>G ENSP00000309572.5:p.Asp684Gly
ENST00000334602.10:c.2051A>G ENSP00000334346.6:p.Asp684Gly
ENST00000460137.6:c.2051A>G ENSP00000425003.1:p.Asp684Gly
ENST00000484238.6:n.864A>G
ENST00000508104.2:c.2051A>G ENSP00000426042.2:p.Asp684Gly
ENST00000656021.1:c.*1597A>G ENSP00000499759.1:n.*1597A>G
XM_011514104.1:c.521A>G XP_011512406.1:p.Asp174Gly
XM_011514105.1:c.407A>G XP_011512407.1:p.Asp136Gly
XM_011514106.1:c.407A>G XP_011512408.1:p.Asp136Gly