Canonical Allele Identifier: CA372493739
Community Standard Title: NM_078480.3(PUF60):c.389G>A (p.Arg130His)
Gene: PUF60 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000008.11:g.143818494C>T , CM000670.2:g.143818494C>T GRCh38
NC_000008.9:g.144972652C>T NCBI36
NG_030583.1:g.1886G>A
NG_033879.1:g.15893G>A

Transcript Alleles

HGVS Amino-acid Change
NM_078480.3:c.389G>A MANE Select NP_510965.1:p.Arg130His
ENST00000526683.6:c.389G>A MANE Select ENSP00000434359.1:p.Arg130His
NM_001136033.2:c.260G>A NP_001129505.1:p.Arg87His
NM_001136033.3:c.260G>A NP_001129505.1:p.Arg87His
NM_001271096.1:c.335G>A NP_001258025.1:p.Arg112His
NM_001271096.2:c.335G>A NP_001258025.1:p.Arg112His
NM_001271097.1:c.251G>A NP_001258026.1:p.Arg84His
NM_001271097.2:c.251G>A NP_001258026.1:p.Arg84His
NM_001271098.1:c.386G>A NP_001258027.1:p.Arg129His
NM_001271098.2:c.386G>A NP_001258027.1:p.Arg129His
NM_001271099.1:c.302G>A NP_001258028.1:p.Arg101His
NM_001271099.2:c.302G>A NP_001258028.1:p.Arg101His
NM_001271100.1:c.209G>A NP_001258029.1:p.Arg70His
NM_001271100.2:c.209G>A NP_001258029.1:p.Arg70His
NM_001362895.1:c.500G>A NP_001349824.1:p.Arg167His
NM_001362895.2:c.500G>A NP_001349824.1:p.Arg167His
NM_001362896.1:c.500G>A NP_001349825.1:p.Arg167His
NM_001362896.2:c.500G>A NP_001349825.1:p.Arg167His
NM_001362897.1:c.449G>A NP_001349826.1:p.Arg150His
NM_001362897.2:c.449G>A NP_001349826.1:p.Arg150His
NM_014281.4:c.338G>A NP_055096.2:p.Arg113His
NM_014281.5:c.338G>A NP_055096.2:p.Arg113His
NM_078480.2:c.389G>A NP_510965.1:p.Arg130His
ENST00000313352.11:c.209G>A ENSP00000322016.7:p.Arg70His
ENST00000349157.10:c.338G>A ENSP00000322036.7:p.Arg113His
ENST00000453551.6:c.260G>A ENSP00000402953.2:p.Arg87His
ENST00000456095.6:c.302G>A ENSP00000395417.2:p.Arg101His
ENST00000524570.5:n.1075G>A
ENST00000524570.6:n.1087G>A
ENST00000526151.6:n.2444G>A
ENST00000526459.5:c.335G>A ENSP00000432610.1:p.Arg112His
ENST00000526459.6:c.335G>A ENSP00000432610.2:p.Arg112His
ENST00000526683.5:c.389G>A ENSP00000434359.1:p.Arg130His
ENST00000527197.5:c.251G>A ENSP00000431960.1:p.Arg84His
ENST00000527584.5:n.426G>A
ENST00000527744.5:c.382G>A
ENST00000527744.6:c.386G>A ENSP00000436131.2:p.Arg129His
ENST00000528320.5:n.314G>A
ENST00000528999.5:n.120G>A
ENST00000529693.1:n.470G>A
ENST00000529999.5:c.449G>A ENSP00000434863.1:p.Arg150His
ENST00000531897.5:c.449G>A ENSP00000437309.1:p.Arg150His
ENST00000531951.5:n.549G>A
ENST00000531951.6:c.260G>A ENSP00000515500.1:p.Arg87His
ENST00000532127.6:c.*234G>A ENSP00000515484.1:n.*234G>A
ENST00000533162.1:c.500G>A ENSP00000433403.1:p.Arg167His
ENST00000533162.2:c.500G>A ENSP00000433403.2:p.Arg167His
ENST00000533362.2:c.464G>A ENSP00000515502.1:p.Arg155His
ENST00000703744.1:n.1100G>A
ENST00000703803.1:n.537G>A
ENST00000703846.1:c.260G>A ENSP00000515498.1:p.Arg87His
ENST00000703847.1:c.500G>A ENSP00000515499.1:p.Arg167His
ENST00000703848.1:n.420G>A
ENST00000703849.1:c.260G>A ENSP00000515501.1:p.Arg87His
ENST00000703850.1:c.464G>A ENSP00000515503.1:p.Arg155His
ENST00000703851.1:n.309G>A
ENST00000703852.1:c.*312G>A ENSP00000515504.1:n.*312G>A
ENST00000703853.1:n.303G>A
ENST00000703866.1:c.389G>A ENSP00000515511.1:p.Arg130His
XM_011516929.1:c.500G>A XP_011515231.1:p.Arg167His
XM_011516930.1:c.449G>A XP_011515232.1:p.Arg150His
XM_017013234.1:c.500G>A XP_016868723.1:p.Arg167His
XM_017013235.1:c.464G>A XP_016868724.1:p.Arg155His
XM_017013236.1:c.449G>A XP_016868725.1:p.Arg150His
XM_017013239.1:c.260G>A XP_016868728.1:p.Arg87His
XM_017013240.1:c.209G>A XP_016868729.1:p.Arg70His