Canonical Allele Identifier: CA7912342
Community Standard Title: NM_002582.4(PARN):c.702+5C>T
Gene: PARN HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.14606479G>A , CM000678.2:g.14606479G>A GRCh38
NC_000016.9:g.14700336G>A , CM000678.1:g.14700336G>A GRCh37
NC_000016.8:g.14607837G>A NCBI36
NG_042871.1:g.28793C>T

Transcript Alleles

HGVS Amino-acid Change
NM_002582.4:c.702+5C>T MANE Select NP_002573.1:n.702+5C>T
ENST00000437198.7:c.702+5C>T MANE Select ENSP00000387911.2:n.702+5C>T
NM_001134477.2:c.519+5C>T NP_001127949.1:n.519+5C>T
NM_001134477.3:c.519+5C>T NP_001127949.1:n.519+5C>T
NM_001242992.1:c.564+5C>T NP_001229921.1:n.564+5C>T
NM_001242992.2:c.564+5C>T NP_001229921.1:n.564+5C>T
NM_002582.3:c.702+5C>T NP_002573.1:n.702+5C>T
ENST00000341484.11:c.519+5C>T ENSP00000345456.7:n.519+5C>T
ENST00000420015.6:c.564+5C>T ENSP00000410525.2:n.564+5C>T
ENST00000437198.6:c.702+5C>T ENSP00000387911.2:n.702+5C>T
ENST00000538472.5:c.608+1802C>T ENSP00000445659.1:n.608+1802C>T
ENST00000539279.5:c.178-2253C>T ENSP00000444381.1:n.178-2253C>T
ENST00000563641.5:c.*436+5C>T ENSP00000458103.1:n.*436+5C>T
ENST00000563641.6:c.*466+5C>T ENSP00000458103.1:n.*466+5C>T
ENST00000564113.6:n.812+5C>T
ENST00000569444.5:c.248+5C>T
ENST00000650960.1:c.702+5C>T ENSP00000499110.1:n.702+5C>T
ENST00000650990.1:c.702+5C>T ENSP00000498741.1:n.702+5C>T
ENST00000651027.1:c.702+5C>T ENSP00000498640.1:n.702+5C>T
ENST00000651049.1:c.702+5C>T ENSP00000498644.1:n.702+5C>T
ENST00000651241.1:n.1728+5C>T
ENST00000651300.1:c.*596+5C>T ENSP00000498294.1:n.*596+5C>T
ENST00000651348.1:c.702+5C>T ENSP00000498315.1:n.702+5C>T
ENST00000651634.1:c.702+5C>T ENSP00000499078.1:n.702+5C>T
ENST00000651760.1:c.502+5C>T
ENST00000651865.1:c.552+5C>T ENSP00000498567.1:n.552+5C>T
ENST00000651913.1:c.652+5C>T
ENST00000652051.1:c.702+5C>T ENSP00000498898.1:n.702+5C>T
ENST00000652066.1:c.407+5C>T
ENST00000652411.1:n.859+5C>T
ENST00000652501.1:c.702+5C>T ENSP00000498261.1:n.702+5C>T
ENST00000652541.1:c.*436+5C>T ENSP00000499206.1:n.*436+5C>T
ENST00000652727.1:c.702+5C>T ENSP00000498650.1:n.702+5C>T
ENST00000697471.1:n.1153+5C>T
ENST00000697472.1:n.743+5C>T
ENST00000697473.1:n.2347+5C>T
ENST00000697474.1:c.702+5C>T ENSP00000513329.1:n.702+5C>T
ENST00000697475.1:n.857+5C>T
ENST00000697476.1:n.835+5C>T
ENST00000697477.1:n.837+5C>T
XM_011522510.1:c.702+5C>T XP_011520812.1:n.702+5C>T
XM_011522510.3:c.702+5C>T XP_011520812.1:n.702+5C>T
XM_011522511.1:c.702+5C>T XP_011520813.1:n.702+5C>T
XM_011522511.2:c.702+5C>T XP_011520813.1:n.702+5C>T
XM_011522512.1:c.702+5C>T XP_011520814.1:n.702+5C>T
XM_011522513.1:c.519+5C>T XP_011520815.1:n.519+5C>T
XM_011522513.2:c.519+5C>T XP_011520815.1:n.519+5C>T
XM_011522514.1:c.702+5C>T XP_011520816.1:n.702+5C>T
XM_011522514.2:c.702+5C>T XP_011520816.1:n.702+5C>T
XM_017023258.2:c.702+5C>T XP_016878747.1:n.702+5C>T
XM_017023259.2:c.-92+5C>T XP_016878748.1:n.-92+5C>T
XM_017023260.1:c.-92+5C>T XP_016878749.1:n.-92+5C>T
XM_024450292.1:c.-92+5C>T XP_024306060.1:n.-92+5C>T
XR_001751906.2:n.863+5C>T
XR_001751907.2:n.863+5C>T