Canonical Allele Identifier: CA493437320
Community Standard Title: NM_002582.4(PARN):c.459G>C (p.Ala153=)
Gene: PARN HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.14610739C>G , CM000678.2:g.14610739C>G GRCh38
NC_000016.9:g.14704596C>G , CM000678.1:g.14704596C>G GRCh37
NC_000016.8:g.14612097C>G NCBI36
NG_042871.1:g.24533G>C

Transcript Alleles

HGVS Amino-acid Change
NM_002582.4:c.459G>C MANE Select NP_002573.1:p.Ala153=
ENST00000437198.7:c.459G>C MANE Select ENSP00000387911.2:p.Ala153=
NM_001134477.2:c.276G>C NP_001127949.1:p.Ala92=
NM_001134477.3:c.276G>C NP_001127949.1:p.Ala92=
NM_001242992.1:c.321G>C NP_001229921.1:p.Ala107=
NM_001242992.2:c.321G>C NP_001229921.1:p.Ala107=
NM_002582.3:c.459G>C NP_002573.1:p.Ala153=
ENST00000341484.11:c.276G>C ENSP00000345456.7:p.Ala92=
ENST00000420015.6:c.321G>C ENSP00000410525.2:p.Ala107=
ENST00000437198.6:c.459G>C ENSP00000387911.2:p.Ala153=
ENST00000538472.5:c.408G>C ENSP00000445659.1:p.Ala136=
ENST00000539279.5:c.178-6513G>C ENSP00000444381.1:n.178-6513G>C
ENST00000563641.5:c.*193G>C ENSP00000458103.1:n.*193G>C
ENST00000563641.6:c.*223G>C ENSP00000458103.1:n.*223G>C
ENST00000564113.6:n.569G>C
ENST00000566021.1:n.524G>C
ENST00000569444.5:c.5G>C
ENST00000650960.1:c.459G>C ENSP00000499110.1:p.Ala153=
ENST00000650990.1:c.459G>C ENSP00000498741.1:p.Ala153=
ENST00000651027.1:c.459G>C ENSP00000498640.1:p.Ala153=
ENST00000651049.1:c.459G>C ENSP00000498644.1:p.Ala153=
ENST00000651241.1:n.1485G>C
ENST00000651300.1:c.*353G>C ENSP00000498294.1:n.*353G>C
ENST00000651348.1:c.459G>C ENSP00000498315.1:p.Ala153=
ENST00000651634.1:c.459G>C ENSP00000499078.1:p.Ala153=
ENST00000651760.1:c.259G>C
ENST00000651865.1:c.309G>C ENSP00000498567.1:p.Ala103=
ENST00000651913.1:c.409G>C
ENST00000652051.1:c.459G>C ENSP00000498898.1:p.Ala153=
ENST00000652066.1:c.164G>C
ENST00000652411.1:n.616G>C
ENST00000652501.1:c.459G>C ENSP00000498261.1:p.Ala153=
ENST00000652541.1:c.*193G>C ENSP00000499206.1:n.*193G>C
ENST00000652727.1:c.459G>C ENSP00000498650.1:p.Ala153=
ENST00000697471.1:n.910G>C
ENST00000697472.1:n.605G>C
ENST00000697473.1:n.584G>C
ENST00000697474.1:c.459G>C ENSP00000513329.1:p.Ala153=
ENST00000697475.1:n.614G>C
ENST00000697476.1:n.592G>C
ENST00000697477.1:n.594G>C
XM_011522510.1:c.459G>C XP_011520812.1:p.Ala153=
XM_011522510.3:c.459G>C XP_011520812.1:p.Ala153=
XM_011522511.1:c.459G>C XP_011520813.1:p.Ala153=
XM_011522511.2:c.459G>C XP_011520813.1:p.Ala153=
XM_011522512.1:c.459G>C XP_011520814.1:p.Ala153=
XM_011522513.1:c.276G>C XP_011520815.1:p.Ala92=
XM_011522513.2:c.276G>C XP_011520815.1:p.Ala92=
XM_011522514.1:c.459G>C XP_011520816.1:p.Ala153=
XM_011522514.2:c.459G>C XP_011520816.1:p.Ala153=
XM_017023258.2:c.459G>C XP_016878747.1:p.Ala153=
XM_017023259.2:c.-335G>C XP_016878748.1:n.-335G>C
XM_017023260.1:c.-335G>C XP_016878749.1:n.-335G>C
XM_024450292.1:c.-1073G>C XP_024306060.1:n.-1073G>C
XR_001751906.2:n.620G>C
XR_001751907.2:n.620G>C