Canonical Allele Identifier: CA1677783379
Community Standard Title: NM_004562.3(PRKN):c.635G= (p.Cys212=)
Gene: PRKN HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.161973401C= , CM000668.2:g.161973401C= GRCh38
NC_000006.11:g.162394433C= , CM000668.1:g.162394433C= GRCh37
NC_000006.10:g.162314423C= NCBI36
NG_008289.1:g.759402G=
NG_008289.2:g.759402G=

Transcript Alleles

HGVS Amino-acid Change
NM_004562.3:c.635G= MANE Select NP_004553.2:p.Cys212=
ENST00000366898.6:c.635G= MANE Select ENSP00000355865.1:p.Cys212=
NM_004562.2:c.635G= NP_004553.2:p.Cys212=
NM_013987.2:c.551G= NP_054642.2:p.Cys184=
NM_013987.3:c.551G= NP_054642.2:p.Cys184=
NM_013988.2:c.188G= NP_054643.2:p.Cys63=
NM_013988.3:c.188G= NP_054643.2:p.Cys63=
ENST00000338468.7:c.62G= ENSP00000343589.3:p.Cys21=
ENST00000338468.8:c.513G= ENSP00000343589.4:n.513G=
ENST00000366892.5:c.635G= ENSP00000355858.1:p.Cys212=
ENST00000366894.5:c.62G= ENSP00000355860.1:p.Cys21=
ENST00000366894.6:c.394G= ENSP00000355860.2:n.394G=
ENST00000366896.5:c.188G= ENSP00000355862.1:p.Cys63=
ENST00000366897.5:c.551G= ENSP00000355863.1:p.Cys184=
ENST00000366898.5:c.635G= ENSP00000355865.1:p.Cys212=
ENST00000479615.5:c.398G= ENSP00000434414.1:p.Cys133=
ENST00000673871.1:c.630G=
ENST00000674232.1:n.653G=
ENST00000674436.1:n.271G=
ENST00000674501.1:n.742G=
XM_011535863.1:c.632G= XP_011534165.1:p.Cys211=
XM_011535864.1:c.635G= XP_011534166.1:p.Cys212=
XM_011535865.1:c.635G= XP_011534167.1:p.Cys212=
XM_011535866.1:c.635G= XP_011534168.1:p.Cys212=
XM_011535867.1:c.635G= XP_011534169.1:p.Cys212=
XM_017010908.1:c.749G= XP_016866397.1:p.Cys250=
XM_017010909.2:c.395G= XP_016866398.1:p.Cys132=
XM_024446449.1:c.398G= XP_024302217.1:p.Cys133=
XR_001743443.2:n.741G=