Canonical Allele Identifier: CA372492431
Gene: PUF60 HGNC NCBI

Linked Data

MyVariant Identifiers: chr8:g.143818206C>G (hg38)

Genomic Alleles

HGVS Genome Assembly
NC_000008.11:g.143818206C>G , CM000670.2:g.143818206C>G GRCh38
NC_000008.9:g.144972364C>G NCBI36
NG_030583.1:g.2174G>C
NG_033879.1:g.16181G>C

Transcript Alleles

HGVS Amino-acid change
ENST00000524570.6:n.1288G>C
ENST00000526151.6:n.2645G>C
ENST00000526459.6:c.536G>C ENSP00000432610.2:p.Gly179Ala
ENST00000527744.6:c.587G>C ENSP00000436131.2:p.Gly196Ala
ENST00000531951.6:c.461G>C ENSP00000515500.1:p.Gly154Ala
ENST00000532127.6:c.*435G>C ENSP00000515484.1:n.*435G>C
ENST00000533162.2:c.701G>C ENSP00000433403.2:p.Gly234Ala
ENST00000533362.2:c.665G>C ENSP00000515502.1:p.Gly222Ala
ENST00000703744.1:n.1301G>C
ENST00000703803.1:n.738G>C
ENST00000703846.1:c.461G>C ENSP00000515498.1:p.Gly154Ala
ENST00000703847.1:c.701G>C ENSP00000515499.1:p.Gly234Ala
ENST00000703848.1:n.621G>C
ENST00000703849.1:c.461G>C ENSP00000515501.1:p.Gly154Ala
ENST00000703850.1:c.665G>C ENSP00000515503.1:p.Gly222Ala
ENST00000703851.1:n.510G>C
ENST00000703852.1:c.*513G>C ENSP00000515504.1:n.*513G>C
ENST00000703853.1:n.504G>C
ENST00000703866.1:c.590G>C ENSP00000515511.1:p.Gly197Ala
ENST00000526683.6:c.590G>C MANE Select ENSP00000434359.1:p.Gly197Ala
ENST00000313352.11:c.410G>C ENSP00000322016.7:p.Gly137Ala
ENST00000349157.10:c.539G>C ENSP00000322036.7:p.Gly180Ala
ENST00000453551.6:c.461G>C ENSP00000402953.2:p.Gly154Ala
ENST00000456095.6:c.503G>C ENSP00000395417.2:p.Gly168Ala
ENST00000524570.5:n.1276G>C
ENST00000526459.5:c.536G>C ENSP00000432610.1:p.Gly179Ala
ENST00000526683.5:c.590G>C ENSP00000434359.1:p.Gly197Ala
ENST00000527197.5:c.452G>C ENSP00000431960.1:p.Gly151Ala
ENST00000527744.5:c.583G>C
ENST00000528320.5:n.602G>C
ENST00000528999.5:n.321G>C
ENST00000529693.1:n.671G>C
ENST00000529999.5:c.650G>C ENSP00000434863.1:p.Gly217Ala
ENST00000531897.5:c.650G>C ENSP00000437309.1:p.Gly217Ala
ENST00000531951.5:n.750G>C
ENST00000532884.1:c.184G>C
NM_001136033.2:c.461G>C NP_001129505.1:p.Gly154Ala
NM_001271096.1:c.536G>C NP_001258025.1:p.Gly179Ala
NM_001271097.1:c.452G>C NP_001258026.1:p.Gly151Ala
NM_001271098.1:c.587G>C NP_001258027.1:p.Gly196Ala
NM_001271099.1:c.503G>C NP_001258028.1:p.Gly168Ala
NM_001271100.1:c.410G>C NP_001258029.1:p.Gly137Ala
NM_014281.4:c.539G>C NP_055096.2:p.Gly180Ala
NM_078480.2:c.590G>C NP_510965.1:p.Gly197Ala
XM_011516929.1:c.701G>C XP_011515231.1:p.Gly234Ala
XM_011516930.1:c.650G>C XP_011515232.1:p.Gly217Ala
NM_001362895.1:c.701G>C NP_001349824.1:p.Gly234Ala
NM_001362896.1:c.701G>C NP_001349825.1:p.Gly234Ala
NM_001362897.1:c.650G>C NP_001349826.1:p.Gly217Ala
XM_017013234.1:c.701G>C XP_016868723.1:p.Gly234Ala
XM_017013235.1:c.665G>C XP_016868724.1:p.Gly222Ala
XM_017013236.1:c.650G>C XP_016868725.1:p.Gly217Ala
XM_017013239.1:c.461G>C XP_016868728.1:p.Gly154Ala
XM_017013240.1:c.410G>C XP_016868729.1:p.Gly137Ala
NM_001136033.3:c.461G>C NP_001129505.1:p.Gly154Ala
NM_001271096.2:c.536G>C NP_001258025.1:p.Gly179Ala
NM_001271097.2:c.452G>C NP_001258026.1:p.Gly151Ala
NM_001271098.2:c.587G>C NP_001258027.1:p.Gly196Ala
NM_001271099.2:c.503G>C NP_001258028.1:p.Gly168Ala
NM_001271100.2:c.410G>C NP_001258029.1:p.Gly137Ala
NM_001362895.2:c.701G>C NP_001349824.1:p.Gly234Ala
NM_001362896.2:c.701G>C NP_001349825.1:p.Gly234Ala
NM_001362897.2:c.650G>C NP_001349826.1:p.Gly217Ala
NM_014281.5:c.539G>C NP_055096.2:p.Gly180Ala
NM_078480.3:c.590G>C MANE Select NP_510965.1:p.Gly197Ala