Canonical Allele Identifier: CA453046193

Gene: PRKN

Linked Data

• dbSNP Id: rs1411546032
• gnomAD v2: 6-161771146-G-A
• gnomAD v4: 6-161350114-G-A
• MyVariant Identifiers: chr6:g.161771146G>A (hg19) ; chr6:g.161350114G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.161350114G>A , CM000668.2:g.161350114G>A	GRCh38
NC_000006.11:g.161771146G>A , CM000668.1:g.161771146G>A	GRCh37
NC_000006.10:g.161691136G>A	NCBI36
NG_008289.1:g.1382689C>T
NG_008289.2:g.1382689C>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000338468.8:c.1261C>T	ENSP00000343589.4:n.1261C>T
ENST00000366894.6:c.1142C>T	ENSP00000355860.2:n.1142C>T
ENST00000366898.6:c.1383C>T MANE Select	ENSP00000355865.1:p.His461=
ENST00000673871.1:c.1464C>T
ENST00000674006.1:n.768C>T
ENST00000674436.1:n.1019C>T
ENST00000338468.7:c.810C>T	ENSP00000343589.3:p.His270=
ENST00000366894.5:c.810C>T	ENSP00000355860.1:p.His270=
ENST00000366896.5:c.936C>T	ENSP00000355862.1:p.His312=
ENST00000366897.5:c.1299C>T	ENSP00000355863.1:p.His433=
ENST00000366898.5:c.1383C>T	ENSP00000355865.1:p.His461=
ENST00000479615.5:c.*159C>T	ENSP00000434414.1:n.*159C>T
ENST00000610470.4:c.516C>T	ENSP00000483773.1:p.His172=
NM_004562.2:c.1383C>T	NP_004553.2:p.His461=
NM_013987.2:c.1299C>T	NP_054642.2:p.His433=
NM_013988.2:c.936C>T	NP_054643.2:p.His312=
XM_011535863.1:c.1380C>T	XP_011534165.1:p.His460=
XM_017010908.1:c.1497C>T	XP_016866397.1:p.His499=
XM_017010909.2:c.1143C>T	XP_016866398.1:p.His381=
XM_024446449.1:c.1146C>T	XP_024302217.1:p.His382=
XR_001743443.2:n.1575C>T
NM_004562.3:c.1383C>T MANE Select	NP_004553.2:p.His461=
NM_013987.3:c.1299C>T	NP_054642.2:p.His433=
NM_013988.3:c.936C>T	NP_054643.2:p.His312=