Canonical Allele Identifier: CA372451822

Gene: PUF60

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.143829279C>A , CM000670.2:g.143829279C>A	GRCh38
NC_000008.10:g.144911449C>A , CM000670.1:g.144911449C>A	GRCh37
NC_000008.9:g.144983437C>A	NCBI36
NG_033879.1:g.5108G>T

Transcript Alleles

HGVS	Amino-acid Change
NM_078480.3:c.24+1G>T MANE Select	NP_510965.1:n.24+1G>T
ENST00000526683.6:c.24+1G>T MANE Select	ENSP00000434359.1:n.24+1G>T
NM_001271096.1:c.24+1G>T	NP_001258025.1:n.24+1G>T
NM_001271096.2:c.24+1G>T	NP_001258025.1:n.24+1G>T
NM_001271097.1:c.24+1G>T	NP_001258026.1:n.24+1G>T
NM_001271097.2:c.24+1G>T	NP_001258026.1:n.24+1G>T
NM_001271098.1:c.24+1G>T	NP_001258027.1:n.24+1G>T
NM_001271098.2:c.24+1G>T	NP_001258027.1:n.24+1G>T
NM_001271099.1:c.24+1G>T	NP_001258028.1:n.24+1G>T
NM_001271099.2:c.24+1G>T	NP_001258028.1:n.24+1G>T
NM_014281.4:c.24+1G>T	NP_055096.2:n.24+1G>T
NM_014281.5:c.24+1G>T	NP_055096.2:n.24+1G>T
NM_078480.2:c.24+1G>T	NP_510965.1:n.24+1G>T
ENST00000349157.10:c.24+1G>T	ENSP00000322036.7:n.24+1G>T
ENST00000456095.6:c.24+1G>T	ENSP00000395417.2:n.24+1G>T
ENST00000526151.5:n.36+1G>T
ENST00000526151.6:n.55+1G>T
ENST00000526459.5:c.24+1G>T	ENSP00000432610.1:n.24+1G>T
ENST00000526459.6:c.24+1G>T	ENSP00000432610.2:n.24+1G>T
ENST00000526683.5:c.24+1G>T	ENSP00000434359.1:n.24+1G>T
ENST00000527197.5:c.24+1G>T	ENSP00000431960.1:n.24+1G>T
ENST00000527744.5:c.20+1G>T
ENST00000527744.6:c.24+1G>T	ENSP00000436131.2:n.24+1G>T
ENST00000531897.5:c.-18+1G>T	ENSP00000437309.1:n.-18+1G>T
ENST00000532127.5:n.40+1G>T
ENST00000532127.6:c.24+1G>T	ENSP00000515484.1:n.24+1G>T
ENST00000533162.1:c.-18+1G>T	ENSP00000433403.1:n.-18+1G>T
ENST00000533162.2:c.-18+1G>T	ENSP00000433403.2:n.-18+1G>T
ENST00000703849.1:c.-242+1G>T	ENSP00000515501.1:n.-242+1G>T
ENST00000703850.1:c.-116+1G>T	ENSP00000515503.1:n.-116+1G>T
ENST00000703852.1:c.24+1G>T	ENSP00000515504.1:n.24+1G>T
ENST00000703866.1:c.24+1G>T	ENSP00000515511.1:n.24+1G>T