Canonical Allele Identifier: CA366477454
Gene: PRKN HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.162443444A>T , CM000668.2:g.162443444A>T GRCh38
NC_000006.11:g.162864476A>T , CM000668.1:g.162864476A>T GRCh37
NC_000006.10:g.162784466A>T NCBI36
NG_008289.1:g.289359T>A
NG_008289.2:g.289359T>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000338468.8:c.37T>A ENSP00000343589.4:p.Phe13Ile
ENST00000366894.6:c.37T>A ENSP00000355860.2:p.Phe13Ile
ENST00000366898.6:c.37T>A MANE Select ENSP00000355865.1:p.Phe13Ile
ENST00000648830.1:n.204T>A
ENST00000673871.1:c.32T>A
ENST00000674232.1:n.55T>A
ENST00000674259.1:n.94T>A
ENST00000674493.1:n.54T>A
ENST00000674501.1:n.144T>A
ENST00000338468.7:c.-415T>A ENSP00000343589.3:n.-415T>A
ENST00000366892.5:c.37T>A ENSP00000355858.1:p.Phe13Ile
ENST00000366894.5:c.-296T>A ENSP00000355860.1:n.-296T>A
ENST00000366896.5:c.37T>A ENSP00000355862.1:p.Phe13Ile
ENST00000366897.5:c.37T>A ENSP00000355863.1:p.Phe13Ile
ENST00000366898.5:c.37T>A ENSP00000355865.1:p.Phe13Ile
ENST00000479615.5:c.-66-180679T>A ENSP00000434414.1:n.-66-180679T>A
NM_004562.2:c.37T>A NP_004553.2:p.Phe13Ile
NM_013987.2:c.37T>A NP_054642.2:p.Phe13Ile
NM_013988.2:c.37T>A NP_054643.2:p.Phe13Ile
XM_011535863.1:c.37T>A XP_011534165.1:p.Phe13Ile
XM_011535864.1:c.37T>A XP_011534166.1:p.Phe13Ile
XM_011535865.1:c.37T>A XP_011534167.1:p.Phe13Ile
XM_011535866.1:c.37T>A XP_011534168.1:p.Phe13Ile
XM_011535867.1:c.37T>A XP_011534169.1:p.Phe13Ile
XM_017010908.1:c.151T>A XP_016866397.1:p.Phe51Ile
XM_017010909.2:c.-66-180679T>A XP_016866398.1:n.-66-180679T>A
XM_024446449.1:c.-66-180679T>A XP_024302217.1:n.-66-180679T>A
XR_001743443.2:n.143T>A
NM_004562.3:c.37T>A MANE Select NP_004553.2:p.Phe13Ile
NM_013987.3:c.37T>A NP_054642.2:p.Phe13Ile
NM_013988.3:c.37T>A NP_054643.2:p.Phe13Ile