Canonical Allele Identifier: CA821727991

Gene: PRKN

Linked Data

• dbSNP Id: rs1239835975
• gnomAD v3: 6-161740550-C-T
• gnomAD v4: 6-161740550-C-T
• MyVariant Identifiers: chr6:g.162161582C>T (hg19) ; chr6:g.161740550C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.161740550C>T , CM000668.2:g.161740550C>T	GRCh38
NC_000006.11:g.162161582C>T , CM000668.1:g.162161582C>T	GRCh37
NC_000006.10:g.162081572C>T	NCBI36
NG_008289.1:g.992253G>A
NG_008289.2:g.992253G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000338468.8:c.749+45222G>A	ENSP00000343589.4:n.749+45222G>A
ENST00000366894.6:c.630+45222G>A	ENSP00000355860.2:n.630+45222G>A
ENST00000366898.6:c.871+45222G>A MANE Select	ENSP00000355865.1:n.871+45222G>A
ENST00000673871.1:c.866+45222G>A
ENST00000674006.1:n.256+45222G>A
ENST00000674436.1:n.507+45222G>A
ENST00000674501.1:n.978+45222G>A
ENST00000338468.7:c.298+45222G>A	ENSP00000343589.3:n.298+45222G>A
ENST00000366892.5:c.871+45222G>A	ENSP00000355858.1:n.871+45222G>A
ENST00000366894.5:c.298+45222G>A	ENSP00000355860.1:n.298+45222G>A
ENST00000366896.5:c.424+45222G>A	ENSP00000355862.1:n.424+45222G>A
ENST00000366897.5:c.787+45222G>A	ENSP00000355863.1:n.787+45222G>A
ENST00000366898.5:c.871+45222G>A	ENSP00000355865.1:n.871+45222G>A
ENST00000479615.5:c.634+45222G>A	ENSP00000434414.1:n.634+45222G>A
NM_004562.2:c.871+45222G>A	NP_004553.2:n.871+45222G>A
NM_013987.2:c.787+45222G>A	NP_054642.2:n.787+45222G>A
NM_013988.2:c.424+45222G>A	NP_054643.2:n.424+45222G>A
XM_011535863.1:c.868+45222G>A	XP_011534165.1:n.868+45222G>A
XM_011535864.1:c.871+45222G>A	XP_011534166.1:n.871+45222G>A
XM_011535865.1:c.871+45222G>A	XP_011534167.1:n.871+45222G>A
XM_017010908.1:c.985+45222G>A	XP_016866397.1:n.985+45222G>A
XM_017010909.2:c.631+45222G>A	XP_016866398.1:n.631+45222G>A
XM_024446449.1:c.634+45222G>A	XP_024302217.1:n.634+45222G>A
XR_001743443.2:n.977+45222G>A
NM_004562.3:c.871+45222G>A MANE Select	NP_004553.2:n.871+45222G>A
NM_013987.3:c.787+45222G>A	NP_054642.2:n.787+45222G>A
NM_013988.3:c.424+45222G>A	NP_054643.2:n.424+45222G>A