Canonical Allele Identifier: CA145503
Community Standard Title: NM_078480.3(PUF60):c.505C>T (p.His169Tyr)
Gene: PUF60 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000008.11:g.143818378G>A , CM000670.2:g.143818378G>A GRCh38
NC_000008.9:g.144972536G>A NCBI36
NG_030583.1:g.2002C>T
NG_033879.1:g.16009C>T

Transcript Alleles

HGVS Amino-acid Change
NM_078480.3:c.505C>T MANE Select NP_510965.1:p.His169Tyr
ENST00000526683.6:c.505C>T MANE Select ENSP00000434359.1:p.His169Tyr
NM_001136033.2:c.376C>T NP_001129505.1:p.His126Tyr
NM_001136033.3:c.376C>T NP_001129505.1:p.His126Tyr
NM_001271096.1:c.451C>T NP_001258025.1:p.His151Tyr
NM_001271096.2:c.451C>T NP_001258025.1:p.His151Tyr
NM_001271097.1:c.367C>T NP_001258026.1:p.His123Tyr
NM_001271097.2:c.367C>T NP_001258026.1:p.His123Tyr
NM_001271098.1:c.502C>T NP_001258027.1:p.His168Tyr
NM_001271098.2:c.502C>T NP_001258027.1:p.His168Tyr
NM_001271099.1:c.418C>T NP_001258028.1:p.His140Tyr
NM_001271099.2:c.418C>T NP_001258028.1:p.His140Tyr
NM_001271100.1:c.325C>T NP_001258029.1:p.His109Tyr
NM_001271100.2:c.325C>T NP_001258029.1:p.His109Tyr
NM_001362895.1:c.616C>T NP_001349824.1:p.His206Tyr
NM_001362895.2:c.616C>T NP_001349824.1:p.His206Tyr
NM_001362896.1:c.616C>T NP_001349825.1:p.His206Tyr
NM_001362896.2:c.616C>T NP_001349825.1:p.His206Tyr
NM_001362897.1:c.565C>T NP_001349826.1:p.His189Tyr
NM_001362897.2:c.565C>T NP_001349826.1:p.His189Tyr
NM_014281.4:c.454C>T NP_055096.2:p.His152Tyr
NM_014281.5:c.454C>T NP_055096.2:p.His152Tyr
NM_078480.2:c.505C>T NP_510965.1:p.His169Tyr
ENST00000313352.11:c.325C>T ENSP00000322016.7:p.His109Tyr
ENST00000349157.10:c.454C>T ENSP00000322036.7:p.His152Tyr
ENST00000453551.6:c.376C>T ENSP00000402953.2:p.His126Tyr
ENST00000456095.6:c.418C>T ENSP00000395417.2:p.His140Tyr
ENST00000524570.5:n.1191C>T
ENST00000524570.6:n.1203C>T
ENST00000526151.6:n.2560C>T
ENST00000526459.5:c.451C>T ENSP00000432610.1:p.His151Tyr
ENST00000526459.6:c.451C>T ENSP00000432610.2:p.His151Tyr
ENST00000526683.5:c.505C>T ENSP00000434359.1:p.His169Tyr
ENST00000527197.5:c.367C>T ENSP00000431960.1:p.His123Tyr
ENST00000527584.5:n.542C>T
ENST00000527744.5:c.498C>T
ENST00000527744.6:c.502C>T ENSP00000436131.2:p.His168Tyr
ENST00000528320.5:n.430C>T
ENST00000528999.5:n.236C>T
ENST00000529693.1:n.586C>T
ENST00000529999.5:c.565C>T ENSP00000434863.1:p.His189Tyr
ENST00000531897.5:c.565C>T ENSP00000437309.1:p.His189Tyr
ENST00000531951.5:n.665C>T
ENST00000531951.6:c.376C>T ENSP00000515500.1:p.His126Tyr
ENST00000532127.6:c.*350C>T ENSP00000515484.1:n.*350C>T
ENST00000532884.1:c.99C>T
ENST00000533162.1:c.616C>T ENSP00000433403.1:p.His206Tyr
ENST00000533162.2:c.616C>T ENSP00000433403.2:p.His206Tyr
ENST00000533362.2:c.580C>T ENSP00000515502.1:p.His194Tyr
ENST00000703744.1:n.1216C>T
ENST00000703803.1:n.653C>T
ENST00000703846.1:c.376C>T ENSP00000515498.1:p.His126Tyr
ENST00000703847.1:c.616C>T ENSP00000515499.1:p.His206Tyr
ENST00000703848.1:n.536C>T
ENST00000703849.1:c.376C>T ENSP00000515501.1:p.His126Tyr
ENST00000703850.1:c.580C>T ENSP00000515503.1:p.His194Tyr
ENST00000703851.1:n.425C>T
ENST00000703852.1:c.*428C>T ENSP00000515504.1:n.*428C>T
ENST00000703853.1:n.419C>T
ENST00000703866.1:c.505C>T ENSP00000515511.1:p.His169Tyr
XM_011516929.1:c.616C>T XP_011515231.1:p.His206Tyr
XM_011516930.1:c.565C>T XP_011515232.1:p.His189Tyr
XM_017013234.1:c.616C>T XP_016868723.1:p.His206Tyr
XM_017013235.1:c.580C>T XP_016868724.1:p.His194Tyr
XM_017013236.1:c.565C>T XP_016868725.1:p.His189Tyr
XM_017013239.1:c.376C>T XP_016868728.1:p.His126Tyr
XM_017013240.1:c.325C>T XP_016868729.1:p.His109Tyr