Canonical Allele Identifier: CA35093026
Gene: UCHL5 HGNC NCBI
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Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.193026083C>T , CM000663.2:g.193026083C>T GRCh38
NC_000001.10:g.192995213C>T , CM000663.1:g.192995213C>T GRCh37
NC_000001.9:g.191261836C>T NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000367454.6:c.629+2002G>A MANE Select ENSP00000356424.1:n.629+2002G>A
ENST00000367448.5:c.629+2002G>A ENSP00000356418.1:n.629+2002G>A
ENST00000367449.5:c.629+2002G>A ENSP00000356419.1:n.629+2002G>A
ENST00000367450.7:c.746+1792G>A ENSP00000356420.3:n.746+1792G>A
ENST00000367451.8:c.710+1792G>A ENSP00000356421.4:n.710+1792G>A
ENST00000367454.5:c.629+2002G>A ENSP00000356424.1:n.629+2002G>A
ENST00000367455.8:c.629+2002G>A ENSP00000356425.3:n.629+2002G>A
ENST00000420791.5:c.301+2002G>A
ENST00000421683.1:c.602+2002G>A ENSP00000389563.1:n.602+2002G>A
ENST00000443327.5:c.195+2002G>A
NM_001199261.1:c.629+2002G>A NP_001186190.1:n.629+2002G>A
NM_001199262.1:c.629+2002G>A NP_001186191.1:n.629+2002G>A
NM_001199263.1:c.629+2002G>A NP_001186192.1:n.629+2002G>A
NM_015984.3:c.629+2002G>A NP_057068.1:n.629+2002G>A
NR_037607.1:n.1028+2002G>A
XM_005245244.3:c.911+1792G>A XP_005245301.1:n.911+1792G>A
XM_005245245.3:c.833+1999G>A XP_005245302.1:n.833+1999G>A
XM_005245246.3:c.830+2002G>A XP_005245303.1:n.830+2002G>A
XM_005245247.3:c.602+2002G>A XP_005245304.1:n.602+2002G>A
XM_005245248.3:c.602+2002G>A XP_005245305.1:n.602+2002G>A
XM_005245249.3:c.257+2002G>A XP_005245306.1:n.257+2002G>A
XM_006711366.2:c.911+1792G>A XP_006711429.1:n.911+1792G>A
XM_006711367.2:c.911+1792G>A XP_006711430.1:n.911+1792G>A
XM_006711368.2:c.911+1792G>A XP_006711431.1:n.911+1792G>A
XM_006711369.2:c.911+1792G>A XP_006711432.1:n.911+1792G>A
XM_006711370.2:c.746+1792G>A XP_006711433.2:n.746+1792G>A
XM_006711371.2:c.338+1792G>A XP_006711434.1:n.338+1792G>A
XM_011509604.1:c.911+1792G>A XP_011507906.1:n.911+1792G>A
XM_011509605.1:c.911+1792G>A XP_011507907.1:n.911+1792G>A
XM_011509606.1:c.911+1792G>A XP_011507908.1:n.911+1792G>A
XM_011509607.1:c.683+1792G>A XP_011507909.1:n.683+1792G>A
XM_011509608.1:c.599+1792G>A XP_011507910.1:n.599+1792G>A
XM_011509609.1:c.599+1792G>A XP_011507911.1:n.599+1792G>A
XR_921823.1:n.845+2002G>A
NM_001199261.2:c.629+2002G>A NP_001186190.1:n.629+2002G>A
NM_001199262.2:c.629+2002G>A NP_001186191.1:n.629+2002G>A
NM_001199263.2:c.629+2002G>A NP_001186192.1:n.629+2002G>A
NM_001350840.1:c.770+1792G>A NP_001337769.1:n.770+1792G>A
NM_001350841.1:c.710+1792G>A NP_001337770.1:n.710+1792G>A
NM_001350842.1:c.710+1792G>A NP_001337771.1:n.710+1792G>A
NM_001350843.1:c.710+1792G>A NP_001337772.1:n.710+1792G>A
NM_001350844.1:c.689+2002G>A NP_001337773.1:n.689+2002G>A
NM_001350845.1:c.710+1792G>A NP_001337774.1:n.710+1792G>A
NM_001350846.1:c.602+2002G>A NP_001337775.1:n.602+2002G>A
NM_001350847.1:c.602+2002G>A NP_001337776.1:n.602+2002G>A
NM_001350848.1:c.257+2002G>A NP_001337777.1:n.257+2002G>A
NM_001350849.1:c.257+2002G>A NP_001337778.1:n.257+2002G>A
NM_001350850.1:c.257+2002G>A NP_001337779.1:n.257+2002G>A
NM_001350851.1:c.257+2002G>A NP_001337780.1:n.257+2002G>A
NM_001350852.1:c.257+2002G>A NP_001337781.1:n.257+2002G>A
NM_015984.4:c.629+2002G>A NP_057068.1:n.629+2002G>A
NR_146930.1:n.843+1792G>A
NR_146931.1:n.843+1792G>A
XM_005245246.5:c.830+2002G>A XP_005245303.1:n.830+2002G>A
XM_006711367.4:c.911+1792G>A XP_006711430.1:n.911+1792G>A
XM_006711369.3:c.911+1792G>A XP_006711432.1:n.911+1792G>A
XM_006711370.4:c.770+1792G>A XP_006711433.3:n.770+1792G>A
XM_006711371.3:c.338+1792G>A XP_006711434.1:n.338+1792G>A
XM_011509604.2:c.911+1792G>A XP_011507906.1:n.911+1792G>A
XM_011509607.2:c.683+1792G>A XP_011507909.1:n.683+1792G>A
XM_011509608.3:c.599+1792G>A XP_011507910.1:n.599+1792G>A
XM_017001430.2:c.911+1792G>A XP_016856919.1:n.911+1792G>A
XM_017001431.2:c.830+2002G>A XP_016856920.1:n.830+2002G>A
XM_017001432.2:c.830+2002G>A XP_016856921.1:n.830+2002G>A
XM_017001433.2:c.830+2002G>A XP_016856922.1:n.830+2002G>A
XM_017001436.2:c.518+2002G>A XP_016856925.1:n.518+2002G>A
XM_017001438.1:c.338+1792G>A XP_016856927.1:n.338+1792G>A
XM_017001439.1:c.338+1792G>A XP_016856928.1:n.338+1792G>A
XM_017001443.1:c.257+2002G>A XP_016856932.1:n.257+2002G>A
XR_001737214.2:n.934+1792G>A
XR_001737217.2:n.853+2002G>A
XR_001737218.2:n.853+2002G>A
XR_001737219.2:n.1010+2002G>A
XR_002956782.1:n.1023+2002G>A
XR_002956783.1:n.1023+2002G>A
XR_921823.3:n.853+2002G>A
NM_001199261.3:c.629+2002G>A MANE Select NP_001186190.1:n.629+2002G>A
NM_001199262.3:c.629+2002G>A NP_001186191.1:n.629+2002G>A
NM_001199263.3:c.629+2002G>A NP_001186192.1:n.629+2002G>A
NM_001350840.2:c.770+1792G>A NP_001337769.1:n.770+1792G>A
NM_001350841.2:c.710+1792G>A NP_001337770.1:n.710+1792G>A
NM_001350842.2:c.710+1792G>A NP_001337771.1:n.710+1792G>A
NM_001350843.2:c.710+1792G>A NP_001337772.1:n.710+1792G>A
NM_001350844.2:c.689+2002G>A NP_001337773.1:n.689+2002G>A
NM_001350845.2:c.710+1792G>A NP_001337774.1:n.710+1792G>A
NM_001350846.2:c.602+2002G>A NP_001337775.1:n.602+2002G>A
NM_001350847.2:c.602+2002G>A NP_001337776.1:n.602+2002G>A
NM_001350848.2:c.257+2002G>A NP_001337777.1:n.257+2002G>A
NM_001350849.2:c.257+2002G>A NP_001337778.1:n.257+2002G>A
NM_001350850.2:c.257+2002G>A NP_001337779.1:n.257+2002G>A
NM_001350851.2:c.257+2002G>A NP_001337780.1:n.257+2002G>A
NM_001350852.2:c.257+2002G>A NP_001337781.1:n.257+2002G>A
NM_015984.5:c.629+2002G>A NP_057068.1:n.629+2002G>A
NR_037607.2:n.997+2002G>A
NR_146930.2:n.810+1792G>A
NR_146931.2:n.810+1792G>A
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