Canonical Allele Identifier: CA453189977
Gene: PRKN HGNC NCBI

Linked Data

MyVariant Identifiers: chr6:g.162864423A>G (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.162443391A>G , CM000668.2:g.162443391A>G GRCh38
NC_000006.11:g.162864423A>G , CM000668.1:g.162864423A>G GRCh37
NC_000006.10:g.162784413A>G NCBI36
NG_008289.1:g.289412T>C
NG_008289.2:g.289412T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000338468.8:c.90T>C ENSP00000343589.4:p.Val30=
ENST00000366894.6:c.90T>C ENSP00000355860.2:p.Val30=
ENST00000366898.6:c.90T>C MANE Select ENSP00000355865.1:p.Val30=
ENST00000648830.1:n.257T>C
ENST00000673871.1:c.85T>C
ENST00000674232.1:n.108T>C
ENST00000674259.1:n.147T>C
ENST00000674493.1:n.107T>C
ENST00000674501.1:n.197T>C
ENST00000338468.7:c.-362T>C ENSP00000343589.3:n.-362T>C
ENST00000366892.5:c.90T>C ENSP00000355858.1:p.Val30=
ENST00000366894.5:c.-243T>C ENSP00000355860.1:n.-243T>C
ENST00000366896.5:c.90T>C ENSP00000355862.1:p.Val30=
ENST00000366897.5:c.90T>C ENSP00000355863.1:p.Val30=
ENST00000366898.5:c.90T>C ENSP00000355865.1:p.Val30=
ENST00000479615.5:c.-66-180626T>C ENSP00000434414.1:n.-66-180626T>C
NM_004562.2:c.90T>C NP_004553.2:p.Val30=
NM_013987.2:c.90T>C NP_054642.2:p.Val30=
NM_013988.2:c.90T>C NP_054643.2:p.Val30=
XM_011535863.1:c.90T>C XP_011534165.1:p.Val30=
XM_011535864.1:c.90T>C XP_011534166.1:p.Val30=
XM_011535865.1:c.90T>C XP_011534167.1:p.Val30=
XM_011535866.1:c.90T>C XP_011534168.1:p.Val30=
XM_011535867.1:c.90T>C XP_011534169.1:p.Val30=
XM_017010908.1:c.204T>C XP_016866397.1:p.Val68=
XM_017010909.2:c.-66-180626T>C XP_016866398.1:n.-66-180626T>C
XM_024446449.1:c.-66-180626T>C XP_024302217.1:n.-66-180626T>C
XR_001743443.2:n.196T>C
NM_004562.3:c.90T>C MANE Select NP_004553.2:p.Val30=
NM_013987.3:c.90T>C NP_054642.2:p.Val30=
NM_013988.3:c.90T>C NP_054643.2:p.Val30=