Canonical Allele Identifier: CA12360788

Gene: PRKN

Linked Data

• dbSNP Id: rs73782917
• gnomAD v2: 6-161928544-C-A
• gnomAD v3: 6-161507512-C-A
• gnomAD v4: 6-161507512-C-A
• MyVariant Identifiers: chr6:g.161928544C>A (hg19) ; chr6:g.161507512C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.161507512C>A , CM000668.2:g.161507512C>A	GRCh38
NC_000006.11:g.161928544C>A , CM000668.1:g.161928544C>A	GRCh37
NC_000006.10:g.161848534C>A	NCBI36
NG_008289.1:g.1225291G>T
NG_008289.2:g.1225291G>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000338468.8:c.961+41342G>T	ENSP00000343589.4:n.961+41342G>T
ENST00000366894.6:c.842+41342G>T	ENSP00000355860.2:n.842+41342G>T
ENST00000366898.6:c.1083+41342G>T MANE Select	ENSP00000355865.1:n.1083+41342G>T
ENST00000673871.1:c.1078+41342G>T
ENST00000674006.1:n.468+41342G>T
ENST00000674436.1:n.719+41342G>T
ENST00000674501.1:n.1190+41342G>T
ENST00000338468.7:c.510+41342G>T	ENSP00000343589.3:n.510+41342G>T
ENST00000366894.5:c.510+41342G>T	ENSP00000355860.1:n.510+41342G>T
ENST00000366896.5:c.636+41342G>T	ENSP00000355862.1:n.636+41342G>T
ENST00000366897.5:c.999+41342G>T	ENSP00000355863.1:n.999+41342G>T
ENST00000366898.5:c.1083+41342G>T	ENSP00000355865.1:n.1083+41342G>T
ENST00000479615.5:c.635-120635G>T	ENSP00000434414.1:n.635-120635G>T
ENST00000610470.4:c.216+41342G>T	ENSP00000483773.1:n.216+41342G>T
NM_004562.2:c.1083+41342G>T	NP_004553.2:n.1083+41342G>T
NM_013987.2:c.999+41342G>T	NP_054642.2:n.999+41342G>T
NM_013988.2:c.636+41342G>T	NP_054643.2:n.636+41342G>T
XM_011535863.1:c.1080+41342G>T	XP_011534165.1:n.1080+41342G>T
XM_011535865.1:c.1083+41342G>T	XP_011534167.1:n.1083+41342G>T
XM_017010908.1:c.1197+41342G>T	XP_016866397.1:n.1197+41342G>T
XM_017010909.2:c.843+41342G>T	XP_016866398.1:n.843+41342G>T
XM_024446449.1:c.846+41342G>T	XP_024302217.1:n.846+41342G>T
XR_001743443.2:n.1189+41342G>T
NM_004562.3:c.1083+41342G>T MANE Select	NP_004553.2:n.1083+41342G>T
NM_013987.3:c.999+41342G>T	NP_054642.2:n.999+41342G>T
NM_013988.3:c.636+41342G>T	NP_054643.2:n.636+41342G>T