Canonical Allele Identifier: CA1677925157
Community Standard Title: NM_004562.3(PRKN):c.245C= (p.Ala82=)
Gene: PRKN HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.162262692G= , CM000668.2:g.162262692G= GRCh38
NC_000006.11:g.162683724G= , CM000668.1:g.162683724G= GRCh37
NC_000006.10:g.162603714G= NCBI36
NG_008289.1:g.470111C=
NG_008289.2:g.470111C=

Transcript Alleles

HGVS Amino-acid Change
NM_004562.3:c.245C= MANE Select NP_004553.2:p.Ala82=
ENST00000366898.6:c.245C= MANE Select ENSP00000355865.1:p.Ala82=
NM_004562.2:c.245C= NP_004553.2:p.Ala82=
NM_013987.2:c.245C= NP_054642.2:p.Ala82=
NM_013987.3:c.245C= NP_054642.2:p.Ala82=
NM_013988.2:c.171+180618C= NP_054643.2:n.171+180618C=
NM_013988.3:c.171+180618C= NP_054643.2:n.171+180618C=
ENST00000338468.7:c.-207C= ENSP00000343589.3:n.-207C=
ENST00000338468.8:c.245C= ENSP00000343589.4:p.Ala82=
ENST00000366892.5:c.245C= ENSP00000355858.1:p.Ala82=
ENST00000366894.5:c.-161-61440C= ENSP00000355860.1:n.-161-61440C=
ENST00000366894.6:c.172-61440C= ENSP00000355860.2:n.172-61440C=
ENST00000366896.5:c.171+180618C= ENSP00000355862.1:n.171+180618C=
ENST00000366897.5:c.245C= ENSP00000355863.1:p.Ala82=
ENST00000366898.5:c.245C= ENSP00000355865.1:p.Ala82=
ENST00000479615.5:c.8C= ENSP00000434414.1:p.Ala3=
ENST00000612540.1:c.437C= ENSP00000478353.1:p.Ala146=
ENST00000615065.1:c.77C= ENSP00000484112.1:p.Ala26=
ENST00000673871.1:c.240C=
ENST00000674232.1:n.263C=
ENST00000674501.1:n.352C=
XM_011535863.1:c.245C= XP_011534165.1:p.Ala82=
XM_011535864.1:c.245C= XP_011534166.1:p.Ala82=
XM_011535865.1:c.245C= XP_011534167.1:p.Ala82=
XM_011535866.1:c.245C= XP_011534168.1:p.Ala82=
XM_011535867.1:c.245C= XP_011534169.1:p.Ala82=
XM_017010908.1:c.359C= XP_016866397.1:p.Ala120=
XM_017010909.2:c.8C= XP_016866398.1:p.Ala3=
XM_024446449.1:c.8C= XP_024302217.1:p.Ala3=
XR_001743443.2:n.351C=