Canonical Allele Identifier: CA359078928

Gene: TERT

Linked Data

• gnomAD v4: 5-1278673-G-A
• MyVariant Identifiers: chr5:g.1278788G>A (hg19) ; chr5:g.1278673G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.1278673G>A , CM000667.2:g.1278673G>A	GRCh38
NC_000005.9:g.1278788G>A , CM000667.1:g.1278788G>A	GRCh37
NC_000005.8:g.1331788G>A	NCBI36
NG_009265.1:g.21375C>T , LRG_343:g.21375C>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000310581.10:c.2254C>T MANE Select	ENSP00000309572.5:p.His752Tyr
ENST00000656021.1:c.*1800C>T	ENSP00000499759.1:n.*1800C>T
ENST00000310581.9:c.2254C>T	ENSP00000309572.5:p.His752Tyr
ENST00000334602.10:c.2254C>T	ENSP00000334346.6:p.His752Tyr
ENST00000460137.6:c.2218C>T	ENSP00000425003.1:p.His740Tyr
ENST00000484238.6:n.1067C>T
ENST00000508104.2:c.2254C>T	ENSP00000426042.2:p.His752Tyr
NM_001193376.1:c.2254C>T	NP_001180305.1:p.His752Tyr
NM_198253.2:c.2254C>T , LRG_343t1:c.2254C>T	NP_937983.2:p.His752Tyr
XM_011514104.1:c.724C>T	XP_011512406.1:p.His242Tyr
XM_011514105.1:c.610C>T	XP_011512407.1:p.His204Tyr
XM_011514106.1:c.610C>T	XP_011512408.1:p.His204Tyr
NR_149162.1:n.2312C>T
NR_149163.1:n.2276C>T
NM_001193376.2:c.2254C>T	NP_001180305.1:p.His752Tyr
NM_198253.3:c.2254C>T MANE Select	NP_937983.2:p.His752Tyr
NR_149162.2:n.2333C>T
NR_149163.2:n.2297C>T
NM_001193376.3:c.2254C>T	NP_001180305.1:p.His752Tyr
NR_149162.3:n.2333C>T
NR_149163.3:n.2297C>T