Canonical Allele Identifier: CA4089912

Gene: PRKN

Linked Data

• dbSNP Id: rs200940812
• ExAC: 6:161771082 C / T
• gnomAD v2: 6-161771082-C-T
• gnomAD v3: 6-161350050-C-T
• gnomAD v4: 6-161350050-C-T
• MyVariant Identifiers: chr6:g.161771082C>T (hg19) ; chr6:g.161350050C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.161350050C>T , CM000668.2:g.161350050C>T	GRCh38
NC_000006.11:g.161771082C>T , CM000668.1:g.161771082C>T	GRCh37
NC_000006.10:g.161691072C>T	NCBI36
NG_008289.1:g.1382753G>A
NG_008289.2:g.1382753G>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000366898.6:c.*49G>A MANE Select	ENSP00000355865.1:n.*49G>A
ENST00000673871.1:c.1528G>A
ENST00000674006.1:n.832G>A
ENST00000674436.1:n.1083G>A
ENST00000366896.5:c.*49G>A	ENSP00000355862.1:n.*49G>A
ENST00000366897.5:c.*49G>A	ENSP00000355863.1:n.*49G>A
ENST00000366898.5:c.*49G>A	ENSP00000355865.1:n.*49G>A
NM_004562.2:c.*49G>A	NP_004553.2:n.*49G>A
NM_013987.2:c.*49G>A	NP_054642.2:n.*49G>A
NM_013988.2:c.*49G>A	NP_054643.2:n.*49G>A
XM_011535863.1:c.*49G>A	XP_011534165.1:n.*49G>A
XM_017010908.1:c.*49G>A	XP_016866397.1:n.*49G>A
XM_017010909.2:c.*49G>A	XP_016866398.1:n.*49G>A
XM_024446449.1:c.*49G>A	XP_024302217.1:n.*49G>A
XR_001743443.2:n.1639G>A
NM_004562.3:c.*49G>A MANE Select	NP_004553.2:n.*49G>A
NM_013987.3:c.*49G>A	NP_054642.2:n.*49G>A
NM_013988.3:c.*49G>A	NP_054643.2:n.*49G>A