Canonical Allele Identifier: CA366456131
Gene: PRKN HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.161350106T>C , CM000668.2:g.161350106T>C GRCh38
NC_000006.11:g.161771138T>C , CM000668.1:g.161771138T>C GRCh37
NC_000006.10:g.161691128T>C NCBI36
NG_008289.1:g.1382697A>G
NG_008289.2:g.1382697A>G

Transcript Alleles

HGVS Amino-acid change
ENST00000338468.8:c.1269A>G ENSP00000343589.4:n.1269A>G
ENST00000366894.6:c.1150A>G ENSP00000355860.2:n.1150A>G
ENST00000366898.6:c.1391A>G MANE Select ENSP00000355865.1:p.Asp464Gly
ENST00000673871.1:c.1472A>G
ENST00000674006.1:n.776A>G
ENST00000674436.1:n.1027A>G
ENST00000338468.7:c.818A>G ENSP00000343589.3:p.Asp273Gly
ENST00000366894.5:c.818A>G ENSP00000355860.1:p.Asp273Gly
ENST00000366896.5:c.944A>G ENSP00000355862.1:p.Asp315Gly
ENST00000366897.5:c.1307A>G ENSP00000355863.1:p.Asp436Gly
ENST00000366898.5:c.1391A>G ENSP00000355865.1:p.Asp464Gly
ENST00000479615.5:c.*167A>G ENSP00000434414.1:n.*167A>G
ENST00000610470.4:c.524A>G ENSP00000483773.1:p.Asp175Gly
NM_004562.2:c.1391A>G NP_004553.2:p.Asp464Gly
NM_013987.2:c.1307A>G NP_054642.2:p.Asp436Gly
NM_013988.2:c.944A>G NP_054643.2:p.Asp315Gly
XM_011535863.1:c.1388A>G XP_011534165.1:p.Asp463Gly
XM_017010908.1:c.1505A>G XP_016866397.1:p.Asp502Gly
XM_017010909.2:c.1151A>G XP_016866398.1:p.Asp384Gly
XM_024446449.1:c.1154A>G XP_024302217.1:p.Asp385Gly
XR_001743443.2:n.1583A>G
NM_004562.3:c.1391A>G MANE Select NP_004553.2:p.Asp464Gly
NM_013987.3:c.1307A>G NP_054642.2:p.Asp436Gly
NM_013988.3:c.944A>G NP_054643.2:p.Asp315Gly