Canonical Allele Identifier: CA187616471

Gene: PUF60

Linked Data

• dbSNP Id: rs772771386
• gnomAD v3: 8-143818129-A-C
• gnomAD v4: 8-143818129-A-C
• MyVariant Identifiers: chr8:g.143818129A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.143818129A>C , CM000670.2:g.143818129A>C	GRCh38
NC_000008.9:g.144972287A>C	NCBI36
NG_030583.1:g.2251T>G
NG_033879.1:g.16258T>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000524570.6:n.1302-54T>G
ENST00000526151.6:n.2659-54T>G
ENST00000526459.6:c.550-54T>G	ENSP00000432610.2:n.550-54T>G
ENST00000527744.6:c.601-54T>G	ENSP00000436131.2:n.601-54T>G
ENST00000531951.6:c.475-54T>G	ENSP00000515500.1:n.475-54T>G
ENST00000532127.6:c.*449-54T>G	ENSP00000515484.1:n.*449-54T>G
ENST00000533162.2:c.715-54T>G	ENSP00000433403.2:n.715-54T>G
ENST00000533362.2:c.679-54T>G	ENSP00000515502.1:n.679-54T>G
ENST00000703744.1:n.1315-54T>G
ENST00000703803.1:n.815T>G
ENST00000703846.1:c.475-54T>G	ENSP00000515498.1:n.475-54T>G
ENST00000703847.1:c.715-54T>G	ENSP00000515499.1:n.715-54T>G
ENST00000703848.1:n.635-54T>G
ENST00000703849.1:c.475-54T>G	ENSP00000515501.1:n.475-54T>G
ENST00000703850.1:c.679-54T>G	ENSP00000515503.1:n.679-54T>G
ENST00000703851.1:n.524-54T>G
ENST00000703852.1:c.*527-54T>G	ENSP00000515504.1:n.*527-54T>G
ENST00000703853.1:n.518-54T>G
ENST00000703866.1:c.604-54T>G	ENSP00000515511.1:n.604-54T>G
ENST00000526683.6:c.604-54T>G MANE Select	ENSP00000434359.1:n.604-54T>G
ENST00000313352.11:c.424-54T>G	ENSP00000322016.7:n.424-54T>G
ENST00000349157.10:c.553-54T>G	ENSP00000322036.7:n.553-54T>G
ENST00000453551.6:c.475-54T>G	ENSP00000402953.2:n.475-54T>G
ENST00000456095.6:c.517-54T>G	ENSP00000395417.2:n.517-54T>G
ENST00000524570.5:n.1290-54T>G
ENST00000526459.5:c.550-54T>G	ENSP00000432610.1:n.550-54T>G
ENST00000526683.5:c.604-54T>G	ENSP00000434359.1:n.604-54T>G
ENST00000527197.5:c.466-54T>G	ENSP00000431960.1:n.466-54T>G
ENST00000527744.5:c.597-54T>G
ENST00000528320.5:n.679T>G
ENST00000528999.5:n.335-54T>G
ENST00000529999.5:c.664-54T>G	ENSP00000434863.1:n.664-54T>G
ENST00000531897.5:c.664-54T>G	ENSP00000437309.1:n.664-54T>G
ENST00000531951.5:n.764-54T>G
ENST00000532884.1:c.261T>G
NM_001136033.2:c.475-54T>G	NP_001129505.1:n.475-54T>G
NM_001271096.1:c.550-54T>G	NP_001258025.1:n.550-54T>G
NM_001271097.1:c.466-54T>G	NP_001258026.1:n.466-54T>G
NM_001271098.1:c.601-54T>G	NP_001258027.1:n.601-54T>G
NM_001271099.1:c.517-54T>G	NP_001258028.1:n.517-54T>G
NM_001271100.1:c.424-54T>G	NP_001258029.1:n.424-54T>G
NM_014281.4:c.553-54T>G	NP_055096.2:n.553-54T>G
NM_078480.2:c.604-54T>G	NP_510965.1:n.604-54T>G
XM_011516929.1:c.715-54T>G	XP_011515231.1:n.715-54T>G
XM_011516930.1:c.664-54T>G	XP_011515232.1:n.664-54T>G
NM_001362895.1:c.715-54T>G	NP_001349824.1:n.715-54T>G
NM_001362896.1:c.715-54T>G	NP_001349825.1:n.715-54T>G
NM_001362897.1:c.664-54T>G	NP_001349826.1:n.664-54T>G
XM_017013234.1:c.715-54T>G	XP_016868723.1:n.715-54T>G
XM_017013235.1:c.679-54T>G	XP_016868724.1:n.679-54T>G
XM_017013236.1:c.664-54T>G	XP_016868725.1:n.664-54T>G
XM_017013239.1:c.475-54T>G	XP_016868728.1:n.475-54T>G
XM_017013240.1:c.424-54T>G	XP_016868729.1:n.424-54T>G
NM_001136033.3:c.475-54T>G	NP_001129505.1:n.475-54T>G
NM_001271096.2:c.550-54T>G	NP_001258025.1:n.550-54T>G
NM_001271097.2:c.466-54T>G	NP_001258026.1:n.466-54T>G
NM_001271098.2:c.601-54T>G	NP_001258027.1:n.601-54T>G
NM_001271099.2:c.517-54T>G	NP_001258028.1:n.517-54T>G
NM_001271100.2:c.424-54T>G	NP_001258029.1:n.424-54T>G
NM_001362895.2:c.715-54T>G	NP_001349824.1:n.715-54T>G
NM_001362896.2:c.715-54T>G	NP_001349825.1:n.715-54T>G
NM_001362897.2:c.664-54T>G	NP_001349826.1:n.664-54T>G
NM_014281.5:c.553-54T>G	NP_055096.2:n.553-54T>G
NM_078480.3:c.604-54T>G MANE Select	NP_510965.1:n.604-54T>G