Canonical Allele Identifier: CA4089978

Gene: PRKN

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.161360168C>T , CM000668.2:g.161360168C>T	GRCh38
NC_000006.11:g.161781200C>T , CM000668.1:g.161781200C>T	GRCh37
NC_000006.10:g.161701190C>T	NCBI36
NG_008289.1:g.1372635G>A
NG_008289.2:g.1372635G>A

Transcript Alleles

HGVS	Amino-acid Change
NM_004562.3:c.1205G>A MANE Select	NP_004553.2:p.Arg402His
ENST00000366898.6:c.1205G>A MANE Select	ENSP00000355865.1:p.Arg402His
NM_004562.2:c.1205G>A	NP_004553.2:p.Arg402His
NM_013987.2:c.1121G>A	NP_054642.2:p.Arg374His
NM_013987.3:c.1121G>A	NP_054642.2:p.Arg374His
NM_013988.2:c.758G>A	NP_054643.2:p.Arg253His
NM_013988.3:c.758G>A	NP_054643.2:p.Arg253His
ENST00000338468.7:c.632G>A	ENSP00000343589.3:p.Arg211His
ENST00000338468.8:c.1083G>A	ENSP00000343589.4:n.1083G>A
ENST00000366894.5:c.632G>A	ENSP00000355860.1:p.Arg211His
ENST00000366894.6:c.964G>A	ENSP00000355860.2:n.964G>A
ENST00000366896.5:c.758G>A	ENSP00000355862.1:p.Arg253His
ENST00000366897.5:c.1121G>A	ENSP00000355863.1:p.Arg374His
ENST00000366898.5:c.1205G>A	ENSP00000355865.1:p.Arg402His
ENST00000479615.5:c.*62-9957G>A	ENSP00000434414.1:n.*62-9957G>A
ENST00000610470.4:c.338G>A	ENSP00000483773.1:p.Arg113His
ENST00000673871.1:c.1286G>A
ENST00000674006.1:n.590G>A
ENST00000674436.1:n.841G>A
XM_011535863.1:c.1202G>A	XP_011534165.1:p.Arg401His
XM_017010908.1:c.1319G>A	XP_016866397.1:p.Arg440His
XM_017010909.2:c.965G>A	XP_016866398.1:p.Arg322His
XM_024446449.1:c.968G>A	XP_024302217.1:p.Arg323His
XR_001743443.2:n.1397G>A