Canonical Allele Identifier: CA2673077655
Gene: TERT HGNC NCBI

Linked Data

gnomAD v4: 5-1266386-A-G

Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.1266386A>G , CM000667.2:g.1266386A>G GRCh38
NC_000005.9:g.1266501A>G , CM000667.1:g.1266501A>G GRCh37
NC_000005.8:g.1319501A>G NCBI36
NG_009265.1:g.33662T>C , LRG_343:g.33662T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000310581.10:c.2654+78T>C MANE Select ENSP00000309572.5:n.2654+78T>C
ENST00000656021.1:c.*2200+78T>C ENSP00000499759.1:n.*2200+78T>C
ENST00000310581.9:c.2654+78T>C ENSP00000309572.5:n.2654+78T>C
ENST00000334602.10:c.2654+78T>C ENSP00000334346.6:n.2654+78T>C
ENST00000460137.6:c.2436+78T>C ENSP00000425003.1:n.2436+78T>C
ENST00000484238.6:n.1285+78T>C
ENST00000503656.1:n.61+78T>C
NM_001193376.1:c.2654+78T>C NP_001180305.1:n.2654+78T>C
NM_198253.2:c.2654+78T>C , LRG_343t1:c.2654+78T>C NP_937983.2:n.2654+78T>C
XM_011514104.1:c.1124+78T>C XP_011512406.1:n.1124+78T>C
XM_011514105.1:c.1010+78T>C XP_011512407.1:n.1010+78T>C
XM_011514106.1:c.1010+78T>C XP_011512408.1:n.1010+78T>C
NR_149162.1:n.2530+78T>C
NR_149163.1:n.2494+78T>C
NM_001193376.2:c.2654+78T>C NP_001180305.1:n.2654+78T>C
NM_198253.3:c.2654+78T>C MANE Select NP_937983.2:n.2654+78T>C
NR_149162.2:n.2551+78T>C
NR_149163.2:n.2515+78T>C
NM_001193376.3:c.2654+78T>C NP_001180305.1:n.2654+78T>C
NR_149162.3:n.2551+78T>C
NR_149163.3:n.2515+78T>C