Canonical Allele Identifier: CA366477402
Gene: PRKN HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.162443420T>G , CM000668.2:g.162443420T>G GRCh38
NC_000006.11:g.162864452T>G , CM000668.1:g.162864452T>G GRCh37
NC_000006.10:g.162784442T>G NCBI36
NG_008289.1:g.289383A>C
NG_008289.2:g.289383A>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000338468.8:c.61A>C ENSP00000343589.4:p.Thr21Pro
ENST00000366894.6:c.61A>C ENSP00000355860.2:p.Thr21Pro
ENST00000366898.6:c.61A>C MANE Select ENSP00000355865.1:p.Thr21Pro
ENST00000648830.1:n.228A>C
ENST00000673871.1:c.56A>C
ENST00000674232.1:n.79A>C
ENST00000674259.1:n.118A>C
ENST00000674493.1:n.78A>C
ENST00000674501.1:n.168A>C
ENST00000338468.7:c.-391A>C ENSP00000343589.3:n.-391A>C
ENST00000366892.5:c.61A>C ENSP00000355858.1:p.Thr21Pro
ENST00000366894.5:c.-272A>C ENSP00000355860.1:n.-272A>C
ENST00000366896.5:c.61A>C ENSP00000355862.1:p.Thr21Pro
ENST00000366897.5:c.61A>C ENSP00000355863.1:p.Thr21Pro
ENST00000366898.5:c.61A>C ENSP00000355865.1:p.Thr21Pro
ENST00000479615.5:c.-66-180655A>C ENSP00000434414.1:n.-66-180655A>C
NM_004562.2:c.61A>C NP_004553.2:p.Thr21Pro
NM_013987.2:c.61A>C NP_054642.2:p.Thr21Pro
NM_013988.2:c.61A>C NP_054643.2:p.Thr21Pro
XM_011535863.1:c.61A>C XP_011534165.1:p.Thr21Pro
XM_011535864.1:c.61A>C XP_011534166.1:p.Thr21Pro
XM_011535865.1:c.61A>C XP_011534167.1:p.Thr21Pro
XM_011535866.1:c.61A>C XP_011534168.1:p.Thr21Pro
XM_011535867.1:c.61A>C XP_011534169.1:p.Thr21Pro
XM_017010908.1:c.175A>C XP_016866397.1:p.Thr59Pro
XM_017010909.2:c.-66-180655A>C XP_016866398.1:n.-66-180655A>C
XM_024446449.1:c.-66-180655A>C XP_024302217.1:n.-66-180655A>C
XR_001743443.2:n.167A>C
NM_004562.3:c.61A>C MANE Select NP_004553.2:p.Thr21Pro
NM_013987.3:c.61A>C NP_054642.2:p.Thr21Pro
NM_013988.3:c.61A>C NP_054643.2:p.Thr21Pro