Canonical Allele Identifier: CA2688991359

Gene: PUF60

Linked Data

• gnomAD v4: 8-143817634-A-T

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.143817634A>T , CM000670.2:g.143817634A>T	GRCh38
NC_000008.9:g.144971792A>T	NCBI36
NG_030583.1:g.2746T>A
NG_033879.1:g.16753T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000524570.6:n.1664T>A
ENST00000526151.6:n.3021T>A
ENST00000526459.6:c.912T>A	ENSP00000432610.2:p.Ala304=
ENST00000527744.6:c.963T>A	ENSP00000436131.2:p.Ala321=
ENST00000531951.6:c.837T>A	ENSP00000515500.1:p.Ala279=
ENST00000532127.6:c.*811T>A	ENSP00000515484.1:n.*811T>A
ENST00000533162.2:c.1077T>A	ENSP00000433403.2:p.Ala359=
ENST00000533362.2:c.1041T>A	ENSP00000515502.1:p.Ala347=
ENST00000703744.1:n.1677T>A
ENST00000703803.1:n.1231T>A
ENST00000703846.1:c.837T>A	ENSP00000515498.1:p.Ala279=
ENST00000703847.1:c.1077T>A	ENSP00000515499.1:p.Ala359=
ENST00000703848.1:n.997T>A
ENST00000703849.1:c.837T>A	ENSP00000515501.1:p.Ala279=
ENST00000703850.1:c.1041T>A	ENSP00000515503.1:p.Ala347=
ENST00000703851.1:n.886T>A
ENST00000703866.1:c.966T>A	ENSP00000515511.1:p.Ala322=
ENST00000526683.6:c.966T>A MANE Select	ENSP00000434359.1:p.Ala322=
ENST00000313352.11:c.786T>A	ENSP00000322016.7:p.Ala262=
ENST00000349157.10:c.915T>A	ENSP00000322036.7:p.Ala305=
ENST00000453551.6:c.837T>A	ENSP00000402953.2:p.Ala279=
ENST00000456095.6:c.879T>A	ENSP00000395417.2:p.Ala293=
ENST00000524570.5:n.1652T>A
ENST00000526459.5:c.912T>A	ENSP00000432610.1:p.Ala304=
ENST00000526683.5:c.966T>A	ENSP00000434359.1:p.Ala322=
ENST00000527197.5:c.828T>A	ENSP00000431960.1:p.Ala276=
ENST00000527744.5:c.959T>A
ENST00000532884.1:c.575T>A
NM_001136033.2:c.837T>A	NP_001129505.1:p.Ala279=
NM_001271096.1:c.912T>A	NP_001258025.1:p.Ala304=
NM_001271097.1:c.828T>A	NP_001258026.1:p.Ala276=
NM_001271098.1:c.963T>A	NP_001258027.1:p.Ala321=
NM_001271099.1:c.879T>A	NP_001258028.1:p.Ala293=
NM_001271100.1:c.786T>A	NP_001258029.1:p.Ala262=
NM_014281.4:c.915T>A	NP_055096.2:p.Ala305=
NM_078480.2:c.966T>A	NP_510965.1:p.Ala322=
XM_011516929.1:c.1077T>A	XP_011515231.1:p.Ala359=
XM_011516930.1:c.1026T>A	XP_011515232.1:p.Ala342=
NM_001362895.1:c.1077T>A	NP_001349824.1:p.Ala359=
NM_001362896.1:c.1077T>A	NP_001349825.1:p.Ala359=
NM_001362897.1:c.1026T>A	NP_001349826.1:p.Ala342=
XM_017013234.1:c.1077T>A	XP_016868723.1:p.Ala359=
XM_017013235.1:c.1041T>A	XP_016868724.1:p.Ala347=
XM_017013236.1:c.1026T>A	XP_016868725.1:p.Ala342=
XM_017013239.1:c.837T>A	XP_016868728.1:p.Ala279=
XM_017013240.1:c.786T>A	XP_016868729.1:p.Ala262=
NM_001136033.3:c.837T>A	NP_001129505.1:p.Ala279=
NM_001271096.2:c.912T>A	NP_001258025.1:p.Ala304=
NM_001271097.2:c.828T>A	NP_001258026.1:p.Ala276=
NM_001271098.2:c.963T>A	NP_001258027.1:p.Ala321=
NM_001271099.2:c.879T>A	NP_001258028.1:p.Ala293=
NM_001271100.2:c.786T>A	NP_001258029.1:p.Ala262=
NM_001362895.2:c.1077T>A	NP_001349824.1:p.Ala359=
NM_001362896.2:c.1077T>A	NP_001349825.1:p.Ala359=
NM_001362897.2:c.1026T>A	NP_001349826.1:p.Ala342=
NM_014281.5:c.915T>A	NP_055096.2:p.Ala305=
NM_078480.3:c.966T>A MANE Select	NP_510965.1:p.Ala322=