Canonical Allele Identifier: CA1678013009
Gene: PRKN HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.162443345C= , CM000668.2:g.162443345C= GRCh38
NC_000006.11:g.162864377C= , CM000668.1:g.162864377C= GRCh37
NC_000006.10:g.162784367C= NCBI36
NG_008289.1:g.289458G=
NG_008289.2:g.289458G=

Transcript Alleles

HGVS Amino-acid Change
ENST00000338468.8:c.136G= ENSP00000343589.4:p.Ala46=
ENST00000366894.6:c.136G= ENSP00000355860.2:p.Ala46=
ENST00000366898.6:c.136G= MANE Select ENSP00000355865.1:p.Ala46=
ENST00000648830.1:n.303G=
ENST00000673871.1:c.131G=
ENST00000674232.1:n.154G=
ENST00000674259.1:n.193G=
ENST00000674493.1:n.153G=
ENST00000674501.1:n.243G=
ENST00000338468.7:c.-316G= ENSP00000343589.3:n.-316G=
ENST00000366892.5:c.136G= ENSP00000355858.1:p.Ala46=
ENST00000366894.5:c.-197G= ENSP00000355860.1:n.-197G=
ENST00000366896.5:c.136G= ENSP00000355862.1:p.Ala46=
ENST00000366897.5:c.136G= ENSP00000355863.1:p.Ala46=
ENST00000366898.5:c.136G= ENSP00000355865.1:p.Ala46=
ENST00000479615.5:c.-66-180580G= ENSP00000434414.1:n.-66-180580G=
NM_004562.2:c.136G= NP_004553.2:p.Ala46=
NM_013987.2:c.136G= NP_054642.2:p.Ala46=
NM_013988.2:c.136G= NP_054643.2:p.Ala46=
XM_011535863.1:c.136G= XP_011534165.1:p.Ala46=
XM_011535864.1:c.136G= XP_011534166.1:p.Ala46=
XM_011535865.1:c.136G= XP_011534167.1:p.Ala46=
XM_011535866.1:c.136G= XP_011534168.1:p.Ala46=
XM_011535867.1:c.136G= XP_011534169.1:p.Ala46=
XM_017010908.1:c.250G= XP_016866397.1:p.Ala84=
XM_017010909.2:c.-66-180580G= XP_016866398.1:n.-66-180580G=
XM_024446449.1:c.-66-180580G= XP_024302217.1:n.-66-180580G=
XR_001743443.2:n.242G=
NM_004562.3:c.136G= MANE Select NP_004553.2:p.Ala46=
NM_013987.3:c.136G= NP_054642.2:p.Ala46=
NM_013988.3:c.136G= NP_054643.2:p.Ala46=