Canonical Allele Identifier: CA359066787
Community Standard Title: NM_198253.3(TERT):c.3328A>G (p.Thr1110Ala)
Gene: TERT HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.1253799T>C , CM000667.2:g.1253799T>C GRCh38
NC_000005.9:g.1253914T>C , CM000667.1:g.1253914T>C GRCh37
NC_000005.8:g.1306914T>C NCBI36
NG_009265.1:g.46249A>G , LRG_343:g.46249A>G

Transcript Alleles

HGVS Amino-acid Change
NM_198253.3:c.3328A>G MANE Select NP_937983.2:p.Thr1110Ala
ENST00000310581.10:c.3328A>G MANE Select ENSP00000309572.5:p.Thr1110Ala
NM_001193376.1:c.3139A>G NP_001180305.1:p.Thr1047Ala
NM_001193376.2:c.3139A>G NP_001180305.1:p.Thr1047Ala
NM_001193376.3:c.3139A>G NP_001180305.1:p.Thr1047Ala
NM_198253.2:c.3328A>G , LRG_343t1:c.3328A>G NP_937983.2:p.Thr1110Ala
NR_149162.1:n.3015A>G
NR_149162.2:n.3036A>G
NR_149162.3:n.3036A>G
NR_149163.1:n.2979A>G
NR_149163.2:n.3000A>G
NR_149163.3:n.3000A>G
ENST00000310581.9:c.3328A>G ENSP00000309572.5:p.Thr1110Ala
ENST00000334602.10:c.3139A>G ENSP00000334346.6:p.Thr1047Ala
ENST00000460137.6:c.2921A>G ENSP00000425003.1:n.2921A>G
ENST00000484238.6:n.1770A>G
ENST00000656021.1:c.*2874A>G ENSP00000499759.1:n.*2874A>G
XM_011514104.1:c.1798A>G XP_011512406.1:p.Thr600Ala
XM_011514105.1:c.1684A>G XP_011512407.1:p.Thr562Ala
XM_011514106.1:c.1684A>G XP_011512408.1:p.Thr562Ala
XR_925683.1:n.287-875T>C