Canonical Allele Identifier: CA2832431244
Gene: PUF60 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000008.11:g.143818046G>C , CM000670.2:g.143818046G>C GRCh38
NC_000008.9:g.144972204G>C NCBI36
NG_030583.1:g.2334C>G
NG_033879.1:g.16341C>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000524570.6:n.1331C>G
ENST00000526151.6:n.2688C>G
ENST00000526459.6:c.579C>G ENSP00000432610.2:p.Ala193=
ENST00000527744.6:c.630C>G ENSP00000436131.2:p.Ala210=
ENST00000531951.6:c.504C>G ENSP00000515500.1:p.Ala168=
ENST00000532127.6:c.*478C>G ENSP00000515484.1:n.*478C>G
ENST00000533162.2:c.744C>G ENSP00000433403.2:p.Ala248=
ENST00000533362.2:c.708C>G ENSP00000515502.1:p.Ala236=
ENST00000703744.1:n.1344C>G
ENST00000703803.1:n.898C>G
ENST00000703846.1:c.504C>G ENSP00000515498.1:p.Ala168=
ENST00000703847.1:c.744C>G ENSP00000515499.1:p.Ala248=
ENST00000703848.1:n.664C>G
ENST00000703849.1:c.504C>G ENSP00000515501.1:p.Ala168=
ENST00000703850.1:c.708C>G ENSP00000515503.1:p.Ala236=
ENST00000703851.1:n.553C>G
ENST00000703852.1:c.*556C>G ENSP00000515504.1:n.*556C>G
ENST00000703853.1:n.547C>G
ENST00000703866.1:c.633C>G ENSP00000515511.1:p.Ala211=
ENST00000526683.6:c.633C>G MANE Select ENSP00000434359.1:p.Ala211=
ENST00000313352.11:c.453C>G ENSP00000322016.7:p.Ala151=
ENST00000349157.10:c.582C>G ENSP00000322036.7:p.Ala194=
ENST00000453551.6:c.504C>G ENSP00000402953.2:p.Ala168=
ENST00000456095.6:c.546C>G ENSP00000395417.2:p.Ala182=
ENST00000524570.5:n.1319C>G
ENST00000526459.5:c.579C>G ENSP00000432610.1:p.Ala193=
ENST00000526683.5:c.633C>G ENSP00000434359.1:p.Ala211=
ENST00000527197.5:c.495C>G ENSP00000431960.1:p.Ala165=
ENST00000527744.5:c.626C>G
ENST00000528320.5:n.762C>G
ENST00000528999.5:n.364C>G
ENST00000529999.5:c.693C>G ENSP00000434863.1:p.Ala231=
ENST00000531897.5:c.693C>G ENSP00000437309.1:p.Ala231=
ENST00000531951.5:n.793C>G
ENST00000532884.1:c.314+30C>G
NM_001136033.2:c.504C>G NP_001129505.1:p.Ala168=
NM_001271096.1:c.579C>G NP_001258025.1:p.Ala193=
NM_001271097.1:c.495C>G NP_001258026.1:p.Ala165=
NM_001271098.1:c.630C>G NP_001258027.1:p.Ala210=
NM_001271099.1:c.546C>G NP_001258028.1:p.Ala182=
NM_001271100.1:c.453C>G NP_001258029.1:p.Ala151=
NM_014281.4:c.582C>G NP_055096.2:p.Ala194=
NM_078480.2:c.633C>G NP_510965.1:p.Ala211=
XM_011516929.1:c.744C>G XP_011515231.1:p.Ala248=
XM_011516930.1:c.693C>G XP_011515232.1:p.Ala231=
NM_001362895.1:c.744C>G NP_001349824.1:p.Ala248=
NM_001362896.1:c.744C>G NP_001349825.1:p.Ala248=
NM_001362897.1:c.693C>G NP_001349826.1:p.Ala231=
XM_017013234.1:c.744C>G XP_016868723.1:p.Ala248=
XM_017013235.1:c.708C>G XP_016868724.1:p.Ala236=
XM_017013236.1:c.693C>G XP_016868725.1:p.Ala231=
XM_017013239.1:c.504C>G XP_016868728.1:p.Ala168=
XM_017013240.1:c.453C>G XP_016868729.1:p.Ala151=
NM_001136033.3:c.504C>G NP_001129505.1:p.Ala168=
NM_001271096.2:c.579C>G NP_001258025.1:p.Ala193=
NM_001271097.2:c.495C>G NP_001258026.1:p.Ala165=
NM_001271098.2:c.630C>G NP_001258027.1:p.Ala210=
NM_001271099.2:c.546C>G NP_001258028.1:p.Ala182=
NM_001271100.2:c.453C>G NP_001258029.1:p.Ala151=
NM_001362895.2:c.744C>G NP_001349824.1:p.Ala248=
NM_001362896.2:c.744C>G NP_001349825.1:p.Ala248=
NM_001362897.2:c.693C>G NP_001349826.1:p.Ala231=
NM_014281.5:c.582C>G NP_055096.2:p.Ala194=
NM_078480.3:c.633C>G MANE Select NP_510965.1:p.Ala211=