Canonical Allele Identifier: CA366475406
Gene: PRKN HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.162201129A>G , CM000668.2:g.162201129A>G GRCh38
NC_000006.11:g.162622161A>G , CM000668.1:g.162622161A>G GRCh37
NC_000006.10:g.162542151A>G NCBI36
NG_008289.1:g.531674T>C
NG_008289.2:g.531674T>C

Transcript Alleles

HGVS Amino-acid change
ENST00000338468.8:c.412+61396T>C ENSP00000343589.4:n.412+61396T>C
ENST00000366894.6:c.293+2T>C ENSP00000355860.2:n.293+2T>C
ENST00000366898.6:c.534+2T>C MANE Select ENSP00000355865.1:n.534+2T>C
ENST00000673871.1:c.529+2T>C
ENST00000674232.1:n.552+2T>C
ENST00000674436.1:n.170+2T>C
ENST00000674501.1:n.641+2T>C
ENST00000338468.7:c.-40+61396T>C ENSP00000343589.3:n.-40+61396T>C
ENST00000366892.5:c.534+2T>C ENSP00000355858.1:n.534+2T>C
ENST00000366894.5:c.-40+2T>C ENSP00000355860.1:n.-40+2T>C
ENST00000366896.5:c.172-227712T>C ENSP00000355862.1:n.172-227712T>C
ENST00000366897.5:c.534+2T>C ENSP00000355863.1:n.534+2T>C
ENST00000366898.5:c.534+2T>C ENSP00000355865.1:n.534+2T>C
ENST00000479615.5:c.297+2T>C ENSP00000434414.1:n.297+2T>C
NM_004562.2:c.534+2T>C NP_004553.2:n.534+2T>C
NM_013987.2:c.534+2T>C NP_054642.2:n.534+2T>C
NM_013988.2:c.172-227712T>C NP_054643.2:n.172-227712T>C
XM_011535863.1:c.531+2T>C XP_011534165.1:n.531+2T>C
XM_011535864.1:c.534+2T>C XP_011534166.1:n.534+2T>C
XM_011535865.1:c.534+2T>C XP_011534167.1:n.534+2T>C
XM_011535866.1:c.534+2T>C XP_011534168.1:n.534+2T>C
XM_011535867.1:c.534+2T>C XP_011534169.1:n.534+2T>C
XM_017010908.1:c.648+2T>C XP_016866397.1:n.648+2T>C
XM_017010909.2:c.294+2T>C XP_016866398.1:n.294+2T>C
XM_024446449.1:c.297+2T>C XP_024302217.1:n.297+2T>C
XR_001743443.2:n.640+2T>C
NM_004562.3:c.534+2T>C MANE Select NP_004553.2:n.534+2T>C
NM_013987.3:c.534+2T>C NP_054642.2:n.534+2T>C
NM_013988.3:c.172-227712T>C NP_054643.2:n.172-227712T>C