Canonical Allele Identifier: CA359081844
Community Standard Title: NM_198253.3(TERT):c.1834G>A (p.Ala612Thr)
Gene: TERT HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.1280274C>T , CM000667.2:g.1280274C>T GRCh38
NC_000005.9:g.1280389C>T , CM000667.1:g.1280389C>T GRCh37
NC_000005.8:g.1333389C>T NCBI36
NG_009265.1:g.19774G>A , LRG_343:g.19774G>A

Transcript Alleles

HGVS Amino-acid Change
NM_198253.3:c.1834G>A MANE Select NP_937983.2:p.Ala612Thr
ENST00000310581.10:c.1834G>A MANE Select ENSP00000309572.5:p.Ala612Thr
NM_001193376.1:c.1834G>A NP_001180305.1:p.Ala612Thr
NM_001193376.2:c.1834G>A NP_001180305.1:p.Ala612Thr
NM_001193376.3:c.1834G>A NP_001180305.1:p.Ala612Thr
NM_198253.2:c.1834G>A , LRG_343t1:c.1834G>A NP_937983.2:p.Ala612Thr
NR_149162.1:n.1892G>A
NR_149162.2:n.1913G>A
NR_149162.3:n.1913G>A
NR_149163.1:n.1892G>A
NR_149163.2:n.1913G>A
NR_149163.3:n.1913G>A
ENST00000310581.9:c.1834G>A ENSP00000309572.5:p.Ala612Thr
ENST00000334602.10:c.1834G>A ENSP00000334346.6:p.Ala612Thr
ENST00000460137.6:c.1834G>A ENSP00000425003.1:p.Ala612Thr
ENST00000484238.6:n.647G>A
ENST00000508104.2:c.1834G>A ENSP00000426042.2:p.Ala612Thr
ENST00000656021.1:c.*1380G>A ENSP00000499759.1:n.*1380G>A
XM_011514104.1:c.304G>A XP_011512406.1:p.Ala102Thr
XM_011514105.1:c.190G>A XP_011512407.1:p.Ala64Thr
XM_011514106.1:c.190G>A XP_011512408.1:p.Ala64Thr