Canonical Allele Identifier: CA366477510
Gene: PRKN HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.162443470A>G , CM000668.2:g.162443470A>G GRCh38
NC_000006.11:g.162864502A>G , CM000668.1:g.162864502A>G GRCh37
NC_000006.10:g.162784492A>G NCBI36
NG_008289.1:g.289333T>C
NG_008289.2:g.289333T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000338468.8:c.11T>C ENSP00000343589.4:p.Phe4Ser
ENST00000366894.6:c.11T>C ENSP00000355860.2:p.Phe4Ser
ENST00000366898.6:c.11T>C MANE Select ENSP00000355865.1:p.Phe4Ser
ENST00000648830.1:n.178T>C
ENST00000673871.1:c.6T>C
ENST00000674232.1:n.29T>C
ENST00000674259.1:n.68T>C
ENST00000674493.1:n.28T>C
ENST00000674501.1:n.118T>C
ENST00000338468.7:c.-441T>C ENSP00000343589.3:n.-441T>C
ENST00000366892.5:c.11T>C ENSP00000355858.1:p.Phe4Ser
ENST00000366894.5:c.-322T>C ENSP00000355860.1:n.-322T>C
ENST00000366896.5:c.11T>C ENSP00000355862.1:p.Phe4Ser
ENST00000366897.5:c.11T>C ENSP00000355863.1:p.Phe4Ser
ENST00000366898.5:c.11T>C ENSP00000355865.1:p.Phe4Ser
ENST00000479615.5:c.-66-180705T>C ENSP00000434414.1:n.-66-180705T>C
NM_004562.2:c.11T>C NP_004553.2:p.Phe4Ser
NM_013987.2:c.11T>C NP_054642.2:p.Phe4Ser
NM_013988.2:c.11T>C NP_054643.2:p.Phe4Ser
XM_011535863.1:c.11T>C XP_011534165.1:p.Phe4Ser
XM_011535864.1:c.11T>C XP_011534166.1:p.Phe4Ser
XM_011535865.1:c.11T>C XP_011534167.1:p.Phe4Ser
XM_011535866.1:c.11T>C XP_011534168.1:p.Phe4Ser
XM_011535867.1:c.11T>C XP_011534169.1:p.Phe4Ser
XM_017010908.1:c.125T>C XP_016866397.1:p.Phe42Ser
XM_017010909.2:c.-66-180705T>C XP_016866398.1:n.-66-180705T>C
XM_024446449.1:c.-66-180705T>C XP_024302217.1:n.-66-180705T>C
XR_001743443.2:n.117T>C
NM_004562.3:c.11T>C MANE Select NP_004553.2:p.Phe4Ser
NM_013987.3:c.11T>C NP_054642.2:p.Phe4Ser
NM_013988.3:c.11T>C NP_054643.2:p.Phe4Ser