Canonical Allele Identifier: CA3184796
Community Standard Title: NM_198253.3(TERT):c.1594G>A (p.Ala532Thr)
Gene: TERT HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.1282604C>T , CM000667.2:g.1282604C>T GRCh38
NC_000005.9:g.1282719C>T , CM000667.1:g.1282719C>T GRCh37
NC_000005.8:g.1335719C>T NCBI36
NG_009265.1:g.17444G>A , LRG_343:g.17444G>A

Transcript Alleles

HGVS Amino-acid Change
NM_198253.3:c.1594G>A MANE Select NP_937983.2:p.Ala532Thr
ENST00000310581.10:c.1594G>A MANE Select ENSP00000309572.5:p.Ala532Thr
NM_001193376.1:c.1594G>A NP_001180305.1:p.Ala532Thr
NM_001193376.2:c.1594G>A NP_001180305.1:p.Ala532Thr
NM_001193376.3:c.1594G>A NP_001180305.1:p.Ala532Thr
NM_198253.2:c.1594G>A , LRG_343t1:c.1594G>A NP_937983.2:p.Ala532Thr
NR_149162.1:n.1652G>A
NR_149162.2:n.1673G>A
NR_149162.3:n.1673G>A
NR_149163.1:n.1652G>A
NR_149163.2:n.1673G>A
NR_149163.3:n.1673G>A
ENST00000310581.9:c.1594G>A ENSP00000309572.5:p.Ala532Thr
ENST00000334602.10:c.1594G>A ENSP00000334346.6:p.Ala532Thr
ENST00000460137.6:c.1594G>A ENSP00000425003.1:p.Ala532Thr
ENST00000484238.6:n.407G>A
ENST00000508104.2:c.1594G>A ENSP00000426042.2:p.Ala532Thr
ENST00000656021.1:c.*1140G>A ENSP00000499759.1:n.*1140G>A
XM_011514104.1:c.64G>A XP_011512406.1:p.Ala22Thr
XM_011514105.1:c.-51G>A XP_011512407.1:n.-51G>A
XM_011514106.1:c.-51G>A XP_011512408.1:n.-51G>A