Canonical Allele Identifier: CA366477326
Gene: PRKN HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.162443385C>G , CM000668.2:g.162443385C>G GRCh38
NC_000006.11:g.162864417C>G , CM000668.1:g.162864417C>G GRCh37
NC_000006.10:g.162784407C>G NCBI36
NG_008289.1:g.289418G>C
NG_008289.2:g.289418G>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000338468.8:c.96G>C ENSP00000343589.4:p.Lys32Asn
ENST00000366894.6:c.96G>C ENSP00000355860.2:p.Lys32Asn
ENST00000366898.6:c.96G>C MANE Select ENSP00000355865.1:p.Lys32Asn
ENST00000648830.1:n.263G>C
ENST00000673871.1:c.91G>C
ENST00000674232.1:n.114G>C
ENST00000674259.1:n.153G>C
ENST00000674493.1:n.113G>C
ENST00000674501.1:n.203G>C
ENST00000338468.7:c.-356G>C ENSP00000343589.3:n.-356G>C
ENST00000366892.5:c.96G>C ENSP00000355858.1:p.Lys32Asn
ENST00000366894.5:c.-237G>C ENSP00000355860.1:n.-237G>C
ENST00000366896.5:c.96G>C ENSP00000355862.1:p.Lys32Asn
ENST00000366897.5:c.96G>C ENSP00000355863.1:p.Lys32Asn
ENST00000366898.5:c.96G>C ENSP00000355865.1:p.Lys32Asn
ENST00000479615.5:c.-66-180620G>C ENSP00000434414.1:n.-66-180620G>C
NM_004562.2:c.96G>C NP_004553.2:p.Lys32Asn
NM_013987.2:c.96G>C NP_054642.2:p.Lys32Asn
NM_013988.2:c.96G>C NP_054643.2:p.Lys32Asn
XM_011535863.1:c.96G>C XP_011534165.1:p.Lys32Asn
XM_011535864.1:c.96G>C XP_011534166.1:p.Lys32Asn
XM_011535865.1:c.96G>C XP_011534167.1:p.Lys32Asn
XM_011535866.1:c.96G>C XP_011534168.1:p.Lys32Asn
XM_011535867.1:c.96G>C XP_011534169.1:p.Lys32Asn
XM_017010908.1:c.210G>C XP_016866397.1:p.Lys70Asn
XM_017010909.2:c.-66-180620G>C XP_016866398.1:n.-66-180620G>C
XM_024446449.1:c.-66-180620G>C XP_024302217.1:n.-66-180620G>C
XR_001743443.2:n.202G>C
NM_004562.3:c.96G>C MANE Select NP_004553.2:p.Lys32Asn
NM_013987.3:c.96G>C NP_054642.2:p.Lys32Asn
NM_013988.3:c.96G>C NP_054643.2:p.Lys32Asn