Canonical Allele Identifier: CA4920895

Gene: PUF60

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.143829293G>C , CM000670.2:g.143829293G>C	GRCh38
NC_000008.10:g.144911463G>C , CM000670.1:g.144911463G>C	GRCh37
NC_000008.9:g.144983451G>C	NCBI36
NG_033879.1:g.5094C>G

Transcript Alleles

HGVS	Amino-acid Change
NM_078480.3:c.11C>G MANE Select	NP_510965.1:p.Ala4Gly
ENST00000526683.6:c.11C>G MANE Select	ENSP00000434359.1:p.Ala4Gly
NM_001271096.1:c.11C>G	NP_001258025.1:p.Ala4Gly
NM_001271096.2:c.11C>G	NP_001258025.1:p.Ala4Gly
NM_001271097.1:c.11C>G	NP_001258026.1:p.Ala4Gly
NM_001271097.2:c.11C>G	NP_001258026.1:p.Ala4Gly
NM_001271098.1:c.11C>G	NP_001258027.1:p.Ala4Gly
NM_001271098.2:c.11C>G	NP_001258027.1:p.Ala4Gly
NM_001271099.1:c.11C>G	NP_001258028.1:p.Ala4Gly
NM_001271099.2:c.11C>G	NP_001258028.1:p.Ala4Gly
NM_014281.4:c.11C>G	NP_055096.2:p.Ala4Gly
NM_014281.5:c.11C>G	NP_055096.2:p.Ala4Gly
NM_078480.2:c.11C>G	NP_510965.1:p.Ala4Gly
ENST00000349157.10:c.11C>G	ENSP00000322036.7:p.Ala4Gly
ENST00000456095.6:c.11C>G	ENSP00000395417.2:p.Ala4Gly
ENST00000526151.5:n.23C>G
ENST00000526151.6:n.42C>G
ENST00000526459.5:c.11C>G	ENSP00000432610.1:p.Ala4Gly
ENST00000526459.6:c.11C>G	ENSP00000432610.2:p.Ala4Gly
ENST00000526683.5:c.11C>G	ENSP00000434359.1:p.Ala4Gly
ENST00000527197.5:c.11C>G	ENSP00000431960.1:p.Ala4Gly
ENST00000527744.5:c.7C>G
ENST00000527744.6:c.11C>G	ENSP00000436131.2:p.Ala4Gly
ENST00000531897.5:c.-31C>G	ENSP00000437309.1:n.-31C>G
ENST00000532127.5:n.27C>G
ENST00000532127.6:c.11C>G	ENSP00000515484.1:p.Ala4Gly
ENST00000533162.1:c.-31C>G	ENSP00000433403.1:n.-31C>G
ENST00000533162.2:c.-31C>G	ENSP00000433403.2:n.-31C>G
ENST00000703849.1:c.-255C>G	ENSP00000515501.1:n.-255C>G
ENST00000703850.1:c.-129C>G	ENSP00000515503.1:n.-129C>G
ENST00000703852.1:c.11C>G	ENSP00000515504.1:p.Ala4Gly
ENST00000703866.1:c.11C>G	ENSP00000515511.1:p.Ala4Gly
XR_001746138.1:n.14G>C