Canonical Allele Identifier: CA372489033

Gene: PUF60

Linked Data

• gnomAD v4: 8-143817608-G-T
• MyVariant Identifiers: chr8:g.143817608G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.143817608G>T , CM000670.2:g.143817608G>T	GRCh38
NC_000008.9:g.144971766G>T	NCBI36
NG_030583.1:g.2772C>A
NG_033879.1:g.16779C>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000524570.6:n.1690C>A
ENST00000526151.6:n.3047C>A
ENST00000526459.6:c.938C>A	ENSP00000432610.2:p.Ala313Asp
ENST00000527744.6:c.989C>A	ENSP00000436131.2:p.Ala330Asp
ENST00000531951.6:c.863C>A	ENSP00000515500.1:p.Ala288Asp
ENST00000532127.6:c.*837C>A	ENSP00000515484.1:n.*837C>A
ENST00000533162.2:c.1103C>A	ENSP00000433403.2:p.Ala368Asp
ENST00000533362.2:c.1067C>A	ENSP00000515502.1:p.Ala356Asp
ENST00000703744.1:n.1703C>A
ENST00000703803.1:n.1257C>A
ENST00000703846.1:c.863C>A	ENSP00000515498.1:p.Ala288Asp
ENST00000703847.1:c.1103C>A	ENSP00000515499.1:p.Ala368Asp
ENST00000703848.1:n.1023C>A
ENST00000703849.1:c.863C>A	ENSP00000515501.1:p.Ala288Asp
ENST00000703850.1:c.1067C>A	ENSP00000515503.1:p.Ala356Asp
ENST00000703851.1:n.912C>A
ENST00000703866.1:c.992C>A	ENSP00000515511.1:p.Ala331Asp
ENST00000526683.6:c.992C>A MANE Select	ENSP00000434359.1:p.Ala331Asp
ENST00000313352.11:c.812C>A	ENSP00000322016.7:p.Ala271Asp
ENST00000349157.10:c.941C>A	ENSP00000322036.7:p.Ala314Asp
ENST00000453551.6:c.863C>A	ENSP00000402953.2:p.Ala288Asp
ENST00000456095.6:c.905C>A	ENSP00000395417.2:p.Ala302Asp
ENST00000524570.5:n.1678C>A
ENST00000526459.5:c.938C>A	ENSP00000432610.1:p.Ala313Asp
ENST00000526683.5:c.992C>A	ENSP00000434359.1:p.Ala331Asp
ENST00000527197.5:c.854C>A	ENSP00000431960.1:p.Ala285Asp
ENST00000527744.5:c.985C>A
ENST00000532884.1:c.601C>A
NM_001136033.2:c.863C>A	NP_001129505.1:p.Ala288Asp
NM_001271096.1:c.938C>A	NP_001258025.1:p.Ala313Asp
NM_001271097.1:c.854C>A	NP_001258026.1:p.Ala285Asp
NM_001271098.1:c.989C>A	NP_001258027.1:p.Ala330Asp
NM_001271099.1:c.905C>A	NP_001258028.1:p.Ala302Asp
NM_001271100.1:c.812C>A	NP_001258029.1:p.Ala271Asp
NM_014281.4:c.941C>A	NP_055096.2:p.Ala314Asp
NM_078480.2:c.992C>A	NP_510965.1:p.Ala331Asp
XM_011516929.1:c.1103C>A	XP_011515231.1:p.Ala368Asp
XM_011516930.1:c.1052C>A	XP_011515232.1:p.Ala351Asp
NM_001362895.1:c.1103C>A	NP_001349824.1:p.Ala368Asp
NM_001362896.1:c.1103C>A	NP_001349825.1:p.Ala368Asp
NM_001362897.1:c.1052C>A	NP_001349826.1:p.Ala351Asp
XM_017013234.1:c.1103C>A	XP_016868723.1:p.Ala368Asp
XM_017013235.1:c.1067C>A	XP_016868724.1:p.Ala356Asp
XM_017013236.1:c.1052C>A	XP_016868725.1:p.Ala351Asp
XM_017013239.1:c.863C>A	XP_016868728.1:p.Ala288Asp
XM_017013240.1:c.812C>A	XP_016868729.1:p.Ala271Asp
NM_001136033.3:c.863C>A	NP_001129505.1:p.Ala288Asp
NM_001271096.2:c.938C>A	NP_001258025.1:p.Ala313Asp
NM_001271097.2:c.854C>A	NP_001258026.1:p.Ala285Asp
NM_001271098.2:c.989C>A	NP_001258027.1:p.Ala330Asp
NM_001271099.2:c.905C>A	NP_001258028.1:p.Ala302Asp
NM_001271100.2:c.812C>A	NP_001258029.1:p.Ala271Asp
NM_001362895.2:c.1103C>A	NP_001349824.1:p.Ala368Asp
NM_001362896.2:c.1103C>A	NP_001349825.1:p.Ala368Asp
NM_001362897.2:c.1052C>A	NP_001349826.1:p.Ala351Asp
NM_014281.5:c.941C>A	NP_055096.2:p.Ala314Asp
NM_078480.3:c.992C>A MANE Select	NP_510965.1:p.Ala331Asp