Canonical Allele Identifier: CA372492402
Gene: PUF60 HGNC NCBI

Linked Data

MyVariant Identifiers: chr8:g.143818199G>T (hg38)

Genomic Alleles

HGVS Genome Assembly
NC_000008.11:g.143818199G>T , CM000670.2:g.143818199G>T GRCh38
NC_000008.9:g.144972357G>T NCBI36
NG_030583.1:g.2181C>A
NG_033879.1:g.16188C>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000524570.6:n.1295C>A
ENST00000526151.6:n.2652C>A
ENST00000526459.6:c.543C>A ENSP00000432610.2:p.Asn181Lys
ENST00000527744.6:c.594C>A ENSP00000436131.2:p.Asn198Lys
ENST00000531951.6:c.468C>A ENSP00000515500.1:p.Asn156Lys
ENST00000532127.6:c.*442C>A ENSP00000515484.1:n.*442C>A
ENST00000533162.2:c.708C>A ENSP00000433403.2:p.Asn236Lys
ENST00000533362.2:c.672C>A ENSP00000515502.1:p.Asn224Lys
ENST00000703744.1:n.1308C>A
ENST00000703803.1:n.745C>A
ENST00000703846.1:c.468C>A ENSP00000515498.1:p.Asn156Lys
ENST00000703847.1:c.708C>A ENSP00000515499.1:p.Asn236Lys
ENST00000703848.1:n.628C>A
ENST00000703849.1:c.468C>A ENSP00000515501.1:p.Asn156Lys
ENST00000703850.1:c.672C>A ENSP00000515503.1:p.Asn224Lys
ENST00000703851.1:n.517C>A
ENST00000703852.1:c.*520C>A ENSP00000515504.1:n.*520C>A
ENST00000703853.1:n.511C>A
ENST00000703866.1:c.597C>A ENSP00000515511.1:p.Asn199Lys
ENST00000526683.6:c.597C>A MANE Select ENSP00000434359.1:p.Asn199Lys
ENST00000313352.11:c.417C>A ENSP00000322016.7:p.Asn139Lys
ENST00000349157.10:c.546C>A ENSP00000322036.7:p.Asn182Lys
ENST00000453551.6:c.468C>A ENSP00000402953.2:p.Asn156Lys
ENST00000456095.6:c.510C>A ENSP00000395417.2:p.Asn170Lys
ENST00000524570.5:n.1283C>A
ENST00000526459.5:c.543C>A ENSP00000432610.1:p.Asn181Lys
ENST00000526683.5:c.597C>A ENSP00000434359.1:p.Asn199Lys
ENST00000527197.5:c.459C>A ENSP00000431960.1:p.Asn153Lys
ENST00000527744.5:c.590C>A
ENST00000528320.5:n.609C>A
ENST00000528999.5:n.328C>A
ENST00000529693.1:n.678C>A
ENST00000529999.5:c.657C>A ENSP00000434863.1:p.Asn219Lys
ENST00000531897.5:c.657C>A ENSP00000437309.1:p.Asn219Lys
ENST00000531951.5:n.757C>A
ENST00000532884.1:c.191C>A
NM_001136033.2:c.468C>A NP_001129505.1:p.Asn156Lys
NM_001271096.1:c.543C>A NP_001258025.1:p.Asn181Lys
NM_001271097.1:c.459C>A NP_001258026.1:p.Asn153Lys
NM_001271098.1:c.594C>A NP_001258027.1:p.Asn198Lys
NM_001271099.1:c.510C>A NP_001258028.1:p.Asn170Lys
NM_001271100.1:c.417C>A NP_001258029.1:p.Asn139Lys
NM_014281.4:c.546C>A NP_055096.2:p.Asn182Lys
NM_078480.2:c.597C>A NP_510965.1:p.Asn199Lys
XM_011516929.1:c.708C>A XP_011515231.1:p.Asn236Lys
XM_011516930.1:c.657C>A XP_011515232.1:p.Asn219Lys
NM_001362895.1:c.708C>A NP_001349824.1:p.Asn236Lys
NM_001362896.1:c.708C>A NP_001349825.1:p.Asn236Lys
NM_001362897.1:c.657C>A NP_001349826.1:p.Asn219Lys
XM_017013234.1:c.708C>A XP_016868723.1:p.Asn236Lys
XM_017013235.1:c.672C>A XP_016868724.1:p.Asn224Lys
XM_017013236.1:c.657C>A XP_016868725.1:p.Asn219Lys
XM_017013239.1:c.468C>A XP_016868728.1:p.Asn156Lys
XM_017013240.1:c.417C>A XP_016868729.1:p.Asn139Lys
NM_001136033.3:c.468C>A NP_001129505.1:p.Asn156Lys
NM_001271096.2:c.543C>A NP_001258025.1:p.Asn181Lys
NM_001271097.2:c.459C>A NP_001258026.1:p.Asn153Lys
NM_001271098.2:c.594C>A NP_001258027.1:p.Asn198Lys
NM_001271099.2:c.510C>A NP_001258028.1:p.Asn170Lys
NM_001271100.2:c.417C>A NP_001258029.1:p.Asn139Lys
NM_001362895.2:c.708C>A NP_001349824.1:p.Asn236Lys
NM_001362896.2:c.708C>A NP_001349825.1:p.Asn236Lys
NM_001362897.2:c.657C>A NP_001349826.1:p.Asn219Lys
NM_014281.5:c.546C>A NP_055096.2:p.Asn182Lys
NM_078480.3:c.597C>A MANE Select NP_510965.1:p.Asn199Lys