Canonical Allele Identifier: CA1096642334

Gene: PRKN

Linked Data

• dbSNP Id: rs1777505761
• gnomAD v3: 6-161893822-G-C
• gnomAD v4: 6-161893822-G-C

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.161893822G>C , CM000668.2:g.161893822G>C	GRCh38
NC_000006.11:g.162314854G>C , CM000668.1:g.162314854G>C	GRCh37
NC_000006.10:g.162234844G>C	NCBI36
NG_008289.1:g.838981C>G
NG_008289.2:g.838981C>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000338468.8:c.612+79480C>G	ENSP00000343589.4:n.612+79480C>G
ENST00000366894.6:c.493+79480C>G	ENSP00000355860.2:n.493+79480C>G
ENST00000366898.6:c.734+79480C>G MANE Select	ENSP00000355865.1:n.734+79480C>G
ENST00000673871.1:c.729+79480C>G
ENST00000674436.1:n.370+79480C>G
ENST00000674501.1:n.841+79480C>G
ENST00000338468.7:c.161+79480C>G	ENSP00000343589.3:n.161+79480C>G
ENST00000366892.5:c.734+79480C>G	ENSP00000355858.1:n.734+79480C>G
ENST00000366894.5:c.161+79480C>G	ENSP00000355860.1:n.161+79480C>G
ENST00000366896.5:c.287+79480C>G	ENSP00000355862.1:n.287+79480C>G
ENST00000366897.5:c.650+79480C>G	ENSP00000355863.1:n.650+79480C>G
ENST00000366898.5:c.734+79480C>G	ENSP00000355865.1:n.734+79480C>G
ENST00000479615.5:c.497+79480C>G	ENSP00000434414.1:n.497+79480C>G
NM_004562.2:c.734+79480C>G	NP_004553.2:n.734+79480C>G
NM_013987.2:c.650+79480C>G	NP_054642.2:n.650+79480C>G
NM_013988.2:c.287+79480C>G	NP_054643.2:n.287+79480C>G
XM_011535863.1:c.731+79480C>G	XP_011534165.1:n.731+79480C>G
XM_011535864.1:c.734+79480C>G	XP_011534166.1:n.734+79480C>G
XM_011535865.1:c.734+79480C>G	XP_011534167.1:n.734+79480C>G
XM_017010908.1:c.848+79480C>G	XP_016866397.1:n.848+79480C>G
XM_017010909.2:c.494+79480C>G	XP_016866398.1:n.494+79480C>G
XM_024446449.1:c.497+79480C>G	XP_024302217.1:n.497+79480C>G
XR_001743443.2:n.840+79480C>G
NM_004562.3:c.734+79480C>G MANE Select	NP_004553.2:n.734+79480C>G
NM_013987.3:c.650+79480C>G	NP_054642.2:n.650+79480C>G
NM_013988.3:c.287+79480C>G	NP_054643.2:n.287+79480C>G