Canonical Allele Identifier: CA7912468
Gene: PARN HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.14627134G>T , CM000678.2:g.14627134G>T GRCh38
NC_000016.9:g.14720991G>T , CM000678.1:g.14720991G>T GRCh37
NC_000016.8:g.14628492G>T NCBI36
NG_042871.1:g.8138C>A

Transcript Alleles

HGVS Amino-acid Change
NM_002582.4:c.299C>A MANE Select NP_002573.1:p.Ser100Tyr
ENST00000437198.7:c.299C>A MANE Select ENSP00000387911.2:p.Ser100Tyr
NM_001134477.2:c.116C>A NP_001127949.1:p.Ser39Tyr
NM_001134477.3:c.116C>A NP_001127949.1:p.Ser39Tyr
NM_001242992.1:c.161C>A NP_001229921.1:p.Ser54Tyr
NM_001242992.2:c.161C>A NP_001229921.1:p.Ser54Tyr
NM_002582.3:c.299C>A NP_002573.1:p.Ser100Tyr
ENST00000341484.11:c.116C>A ENSP00000345456.7:p.Ser39Tyr
ENST00000420015.6:c.161C>A ENSP00000410525.2:p.Ser54Tyr
ENST00000437198.6:c.299C>A ENSP00000387911.2:p.Ser100Tyr
ENST00000538472.5:c.248C>A ENSP00000445659.1:p.Ser83Tyr
ENST00000539279.5:c.177+1038C>A ENSP00000444381.1:n.177+1038C>A
ENST00000563641.5:c.*33C>A ENSP00000458103.1:n.*33C>A
ENST00000563641.6:c.*33C>A ENSP00000458103.1:n.*33C>A
ENST00000564113.6:n.409C>A
ENST00000566021.1:n.425C>A
ENST00000650960.1:c.299C>A ENSP00000499110.1:p.Ser100Tyr
ENST00000650990.1:c.299C>A ENSP00000498741.1:p.Ser100Tyr
ENST00000651027.1:c.299C>A ENSP00000498640.1:p.Ser100Tyr
ENST00000651049.1:c.299C>A ENSP00000498644.1:p.Ser100Tyr
ENST00000651241.1:n.1325C>A
ENST00000651300.1:c.*193C>A ENSP00000498294.1:n.*193C>A
ENST00000651348.1:c.299C>A ENSP00000498315.1:p.Ser100Tyr
ENST00000651634.1:c.299C>A ENSP00000499078.1:p.Ser100Tyr
ENST00000651760.1:c.99C>A
ENST00000651865.1:c.177+1038C>A ENSP00000498567.1:n.177+1038C>A
ENST00000651913.1:c.249C>A
ENST00000652051.1:c.299C>A ENSP00000498898.1:p.Ser100Tyr
ENST00000652066.1:c.4C>A
ENST00000652411.1:n.456C>A
ENST00000652501.1:c.299C>A ENSP00000498261.1:p.Ser100Tyr
ENST00000652541.1:c.*33C>A ENSP00000499206.1:n.*33C>A
ENST00000652727.1:c.299C>A ENSP00000498650.1:p.Ser100Tyr
ENST00000697472.1:n.445C>A
ENST00000697473.1:n.424C>A
ENST00000697474.1:c.299C>A ENSP00000513329.1:p.Ser100Tyr
ENST00000697475.1:n.454C>A
ENST00000697476.1:n.432C>A
ENST00000697477.1:n.434C>A
XM_011522510.1:c.299C>A XP_011520812.1:p.Ser100Tyr
XM_011522510.3:c.299C>A XP_011520812.1:p.Ser100Tyr
XM_011522511.1:c.299C>A XP_011520813.1:p.Ser100Tyr
XM_011522511.2:c.299C>A XP_011520813.1:p.Ser100Tyr
XM_011522512.1:c.299C>A XP_011520814.1:p.Ser100Tyr
XM_011522513.1:c.116C>A XP_011520815.1:p.Ser39Tyr
XM_011522513.2:c.116C>A XP_011520815.1:p.Ser39Tyr
XM_011522514.1:c.299C>A XP_011520816.1:p.Ser100Tyr
XM_011522514.2:c.299C>A XP_011520816.1:p.Ser100Tyr
XM_017023258.2:c.299C>A XP_016878747.1:p.Ser100Tyr
XM_017023259.2:c.-495C>A XP_016878748.1:n.-495C>A
XM_017023260.1:c.-434C>A XP_016878749.1:n.-434C>A
XM_024450292.1:c.-1233C>A XP_024306060.1:n.-1233C>A
XR_001751906.2:n.460C>A
XR_001751907.2:n.460C>A