Canonical Allele Identifier: CA3184955
Community Standard Title: NM_198253.3(TERT):c.567C>A (p.His189Gln)
Gene: TERT HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.1294319G>T , CM000667.2:g.1294319G>T GRCh38
NC_000005.9:g.1294434G>T , CM000667.1:g.1294434G>T GRCh37
NC_000005.8:g.1347434G>T NCBI36
NG_009265.1:g.5729C>A , LRG_343:g.5729C>A

Transcript Alleles

HGVS Amino-acid Change
NM_198253.3:c.567C>A MANE Select NP_937983.2:p.His189Gln
ENST00000310581.10:c.567C>A MANE Select ENSP00000309572.5:p.His189Gln
NM_001193376.1:c.567C>A NP_001180305.1:p.His189Gln
NM_001193376.2:c.567C>A NP_001180305.1:p.His189Gln
NM_001193376.3:c.567C>A NP_001180305.1:p.His189Gln
NM_198253.2:c.567C>A , LRG_343t1:c.567C>A NP_937983.2:p.His189Gln
NR_149162.1:n.625C>A
NR_149162.2:n.646C>A
NR_149162.3:n.646C>A
NR_149163.1:n.625C>A
NR_149163.2:n.646C>A
NR_149163.3:n.646C>A
ENST00000310581.9:c.567C>A ENSP00000309572.5:p.His189Gln
ENST00000334602.10:c.567C>A ENSP00000334346.6:p.His189Gln
ENST00000460137.6:c.567C>A ENSP00000425003.1:p.His189Gln
ENST00000508104.2:c.567C>A ENSP00000426042.2:p.His189Gln
ENST00000656021.1:c.567C>A ENSP00000499759.1:p.His189Gln