Canonical Allele Identifier: CA848786904

Gene: PUF60

Linked Data

• dbSNP Id: rs1261113096
• gnomAD v3: 8-143818124-C-A
• gnomAD v4: 8-143818124-C-A
• MyVariant Identifiers: chr8:g.143818124C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.143818124C>A , CM000670.2:g.143818124C>A	GRCh38
NC_000008.9:g.144972282C>A	NCBI36
NG_030583.1:g.2256G>T
NG_033879.1:g.16263G>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000524570.6:n.1302-49G>T
ENST00000526151.6:n.2659-49G>T
ENST00000526459.6:c.550-49G>T	ENSP00000432610.2:n.550-49G>T
ENST00000527744.6:c.601-49G>T	ENSP00000436131.2:n.601-49G>T
ENST00000531951.6:c.475-49G>T	ENSP00000515500.1:n.475-49G>T
ENST00000532127.6:c.*449-49G>T	ENSP00000515484.1:n.*449-49G>T
ENST00000533162.2:c.715-49G>T	ENSP00000433403.2:n.715-49G>T
ENST00000533362.2:c.679-49G>T	ENSP00000515502.1:n.679-49G>T
ENST00000703744.1:n.1315-49G>T
ENST00000703803.1:n.820G>T
ENST00000703846.1:c.475-49G>T	ENSP00000515498.1:n.475-49G>T
ENST00000703847.1:c.715-49G>T	ENSP00000515499.1:n.715-49G>T
ENST00000703848.1:n.635-49G>T
ENST00000703849.1:c.475-49G>T	ENSP00000515501.1:n.475-49G>T
ENST00000703850.1:c.679-49G>T	ENSP00000515503.1:n.679-49G>T
ENST00000703851.1:n.524-49G>T
ENST00000703852.1:c.*527-49G>T	ENSP00000515504.1:n.*527-49G>T
ENST00000703853.1:n.518-49G>T
ENST00000703866.1:c.604-49G>T	ENSP00000515511.1:n.604-49G>T
ENST00000526683.6:c.604-49G>T MANE Select	ENSP00000434359.1:n.604-49G>T
ENST00000313352.11:c.424-49G>T	ENSP00000322016.7:n.424-49G>T
ENST00000349157.10:c.553-49G>T	ENSP00000322036.7:n.553-49G>T
ENST00000453551.6:c.475-49G>T	ENSP00000402953.2:n.475-49G>T
ENST00000456095.6:c.517-49G>T	ENSP00000395417.2:n.517-49G>T
ENST00000524570.5:n.1290-49G>T
ENST00000526459.5:c.550-49G>T	ENSP00000432610.1:n.550-49G>T
ENST00000526683.5:c.604-49G>T	ENSP00000434359.1:n.604-49G>T
ENST00000527197.5:c.466-49G>T	ENSP00000431960.1:n.466-49G>T
ENST00000527744.5:c.597-49G>T
ENST00000528320.5:n.684G>T
ENST00000528999.5:n.335-49G>T
ENST00000529999.5:c.664-49G>T	ENSP00000434863.1:n.664-49G>T
ENST00000531897.5:c.664-49G>T	ENSP00000437309.1:n.664-49G>T
ENST00000531951.5:n.764-49G>T
ENST00000532884.1:c.266G>T
NM_001136033.2:c.475-49G>T	NP_001129505.1:n.475-49G>T
NM_001271096.1:c.550-49G>T	NP_001258025.1:n.550-49G>T
NM_001271097.1:c.466-49G>T	NP_001258026.1:n.466-49G>T
NM_001271098.1:c.601-49G>T	NP_001258027.1:n.601-49G>T
NM_001271099.1:c.517-49G>T	NP_001258028.1:n.517-49G>T
NM_001271100.1:c.424-49G>T	NP_001258029.1:n.424-49G>T
NM_014281.4:c.553-49G>T	NP_055096.2:n.553-49G>T
NM_078480.2:c.604-49G>T	NP_510965.1:n.604-49G>T
XM_011516929.1:c.715-49G>T	XP_011515231.1:n.715-49G>T
XM_011516930.1:c.664-49G>T	XP_011515232.1:n.664-49G>T
NM_001362895.1:c.715-49G>T	NP_001349824.1:n.715-49G>T
NM_001362896.1:c.715-49G>T	NP_001349825.1:n.715-49G>T
NM_001362897.1:c.664-49G>T	NP_001349826.1:n.664-49G>T
XM_017013234.1:c.715-49G>T	XP_016868723.1:n.715-49G>T
XM_017013235.1:c.679-49G>T	XP_016868724.1:n.679-49G>T
XM_017013236.1:c.664-49G>T	XP_016868725.1:n.664-49G>T
XM_017013239.1:c.475-49G>T	XP_016868728.1:n.475-49G>T
XM_017013240.1:c.424-49G>T	XP_016868729.1:n.424-49G>T
NM_001136033.3:c.475-49G>T	NP_001129505.1:n.475-49G>T
NM_001271096.2:c.550-49G>T	NP_001258025.1:n.550-49G>T
NM_001271097.2:c.466-49G>T	NP_001258026.1:n.466-49G>T
NM_001271098.2:c.601-49G>T	NP_001258027.1:n.601-49G>T
NM_001271099.2:c.517-49G>T	NP_001258028.1:n.517-49G>T
NM_001271100.2:c.424-49G>T	NP_001258029.1:n.424-49G>T
NM_001362895.2:c.715-49G>T	NP_001349824.1:n.715-49G>T
NM_001362896.2:c.715-49G>T	NP_001349825.1:n.715-49G>T
NM_001362897.2:c.664-49G>T	NP_001349826.1:n.664-49G>T
NM_014281.5:c.553-49G>T	NP_055096.2:n.553-49G>T
NM_078480.3:c.604-49G>T MANE Select	NP_510965.1:n.604-49G>T