Canonical Allele Identifier: CA2262900636
Gene: PNPO HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.47946676A= , CM000679.2:g.47946676A= GRCh38
NC_000017.10:g.46024042A= , CM000679.1:g.46024042A= GRCh37
NC_000017.9:g.43379041A= NCBI36
NG_008744.1:g.10154A=

Transcript Alleles

HGVS Amino-acid Change
ENST00000225573.5:c.551A= ENSP00000225573.5:p.His184=
ENST00000434554.7:c.626A= ENSP00000399960.3:p.His209=
ENST00000582171.6:c.*345A= ENSP00000463994.1:n.*345A=
ENST00000583599.6:c.440A= ENSP00000463919.2:p.His147=
ENST00000584061.6:c.611A= ENSP00000463972.2:p.His204=
ENST00000584806.2:n.349A=
ENST00000641285.1:n.460A=
ENST00000641305.1:n.2179A=
ENST00000641323.1:c.*699A= ENSP00000492965.1:n.*699A=
ENST00000641427.1:n.680A=
ENST00000641511.1:c.412A=
ENST00000641703.1:c.396A= ENSP00000493219.1:n.396A=
ENST00000641709.1:c.*502A= ENSP00000493349.1:n.*502A=
ENST00000641856.1:c.*1188A= ENSP00000493224.1:n.*1188A=
ENST00000642017.2:c.680A= MANE Select ENSP00000493302.2:p.His227=
ENST00000225573.4:c.680A= ENSP00000225573.4:p.His227=
ENST00000434554.6:c.551A= ENSP00000399960.2:p.His184=
ENST00000582171.5:c.*345A= ENSP00000463994.1:n.*345A=
ENST00000584806.1:n.349A=
ENST00000585320.5:c.*162A= ENSP00000462345.1:n.*162A=
NM_018129.3:c.680A= NP_060599.1:p.His227=
XM_005257500.2:c.440A= XP_005257557.1:p.His147=
XM_011524968.1:c.395A= XP_011523270.1:p.His132=
XM_005257500.3:c.440A= XP_005257557.1:p.His147=
XM_011524968.2:c.395A= XP_011523270.1:p.His132=
XM_017024813.1:c.440A= XP_016880302.1:p.His147=
NM_018129.4:c.680A= MANE Select NP_060599.1:p.His227=