Canonical Allele Identifier: CA2681112538

Gene: PRKN

Linked Data

• gnomAD v4: 6-161350012-G-A

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.161350012G>A , CM000668.2:g.161350012G>A	GRCh38
NC_000006.11:g.161771044G>A , CM000668.1:g.161771044G>A	GRCh37
NC_000006.10:g.161691034G>A	NCBI36
NG_008289.1:g.1382791C>T
NG_008289.2:g.1382791C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000366898.6:c.*87C>T MANE Select	ENSP00000355865.1:n.*87C>T
ENST00000673871.1:c.1566C>T
ENST00000674006.1:n.870C>T
ENST00000674436.1:n.1121C>T
ENST00000366896.5:c.*87C>T	ENSP00000355862.1:n.*87C>T
ENST00000366897.5:c.*87C>T	ENSP00000355863.1:n.*87C>T
ENST00000366898.5:c.*87C>T	ENSP00000355865.1:n.*87C>T
NM_004562.2:c.*87C>T	NP_004553.2:n.*87C>T
NM_013987.2:c.*87C>T	NP_054642.2:n.*87C>T
NM_013988.2:c.*87C>T	NP_054643.2:n.*87C>T
XM_011535863.1:c.*87C>T	XP_011534165.1:n.*87C>T
XM_017010908.1:c.*87C>T	XP_016866397.1:n.*87C>T
XM_017010909.2:c.*87C>T	XP_016866398.1:n.*87C>T
XM_024446449.1:c.*87C>T	XP_024302217.1:n.*87C>T
XR_001743443.2:n.1677C>T
NM_004562.3:c.*87C>T MANE Select	NP_004553.2:n.*87C>T
NM_013987.3:c.*87C>T	NP_054642.2:n.*87C>T
NM_013988.3:c.*87C>T	NP_054643.2:n.*87C>T