Canonical Allele Identifier: CA821701470

Gene: PRKN

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.161347907C>T , CM000668.2:g.161347907C>T	GRCh38
NC_000006.11:g.161768939C>T , CM000668.1:g.161768939C>T	GRCh37
NC_000006.10:g.161688929C>T	NCBI36
NG_008289.1:g.1384896G>A
NG_008289.2:g.1384896G>A

Transcript Alleles

HGVS	Amino-acid Change
NM_004562.3:c.*2192G>A MANE Select	NP_004553.2:n.*2192G>A
ENST00000366898.6:c.*2192G>A MANE Select	ENSP00000355865.1:n.*2192G>A
NM_004562.2:c.*2192G>A	NP_004553.2:n.*2192G>A
NM_013987.2:c.*2192G>A	NP_054642.2:n.*2192G>A
NM_013987.3:c.*2192G>A	NP_054642.2:n.*2192G>A
NM_013988.2:c.*2192G>A	NP_054643.2:n.*2192G>A
NM_013988.3:c.*2192G>A	NP_054643.2:n.*2192G>A
ENST00000366898.5:c.*2192G>A	ENSP00000355865.1:n.*2192G>A
ENST00000673871.1:c.3671G>A
ENST00000674006.1:n.2975G>A
ENST00000674436.1:n.3226G>A
XM_011535863.1:c.*2192G>A	XP_011534165.1:n.*2192G>A
XM_017010908.1:c.*2192G>A	XP_016866397.1:n.*2192G>A
XM_017010909.2:c.*2192G>A	XP_016866398.1:n.*2192G>A
XM_024446449.1:c.*2192G>A	XP_024302217.1:n.*2192G>A
XR_001743443.2:n.3782G>A