Canonical Allele Identifier: CA453167668

Gene: PRKN

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.162054109G>A , CM000668.2:g.162054109G>A	GRCh38
NC_000006.11:g.162475141G>A , CM000668.1:g.162475141G>A	GRCh37
NC_000006.10:g.162395131G>A	NCBI36
NG_008289.1:g.678694C>T
NG_008289.2:g.678694C>T

Transcript Alleles

HGVS	Amino-acid Change
NM_004562.3:c.600C>T MANE Select	NP_004553.2:p.His200=
ENST00000366898.6:c.600C>T MANE Select	ENSP00000355865.1:p.His200=
NM_004562.2:c.600C>T	NP_004553.2:p.His200=
NM_013987.2:c.535-80692C>T	NP_054642.2:n.535-80692C>T
NM_013987.3:c.535-80692C>T	NP_054642.2:n.535-80692C>T
NM_013988.2:c.172-80692C>T	NP_054643.2:n.172-80692C>T
NM_013988.3:c.172-80692C>T	NP_054643.2:n.172-80692C>T
ENST00000338468.7:c.27C>T	ENSP00000343589.3:p.His9=
ENST00000338468.8:c.478C>T	ENSP00000343589.4:n.478C>T
ENST00000366892.5:c.600C>T	ENSP00000355858.1:p.His200=
ENST00000366894.5:c.27C>T	ENSP00000355860.1:p.His9=
ENST00000366894.6:c.359C>T	ENSP00000355860.2:n.359C>T
ENST00000366896.5:c.172-80692C>T	ENSP00000355862.1:n.172-80692C>T
ENST00000366897.5:c.535-80692C>T	ENSP00000355863.1:n.535-80692C>T
ENST00000366898.5:c.600C>T	ENSP00000355865.1:p.His200=
ENST00000479615.5:c.363C>T	ENSP00000434414.1:p.His121=
ENST00000673871.1:c.595C>T
ENST00000674232.1:n.618C>T
ENST00000674436.1:n.236C>T
ENST00000674501.1:n.707C>T
XM_011535863.1:c.597C>T	XP_011534165.1:p.His199=
XM_011535864.1:c.600C>T	XP_011534166.1:p.His200=
XM_011535865.1:c.600C>T	XP_011534167.1:p.His200=
XM_011535866.1:c.600C>T	XP_011534168.1:p.His200=
XM_011535867.1:c.600C>T	XP_011534169.1:p.His200=
XM_017010908.1:c.714C>T	XP_016866397.1:p.His238=
XM_017010909.2:c.360C>T	XP_016866398.1:p.His120=
XM_024446449.1:c.363C>T	XP_024302217.1:p.His121=
XR_001743443.2:n.706C>T