Canonical Allele Identifier: CA151429291
Community Standard Title: NM_004562.3(PRKN):c.*1909G>A
Gene: PRKN HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.161348190C>T , CM000668.2:g.161348190C>T GRCh38
NC_000006.11:g.161769222C>T , CM000668.1:g.161769222C>T GRCh37
NC_000006.10:g.161689212C>T NCBI36
NG_008289.1:g.1384613G>A
NG_008289.2:g.1384613G>A

Transcript Alleles

HGVS Amino-acid Change
NM_004562.3:c.*1909G>A MANE Select NP_004553.2:n.*1909G>A
ENST00000366898.6:c.*1909G>A MANE Select ENSP00000355865.1:n.*1909G>A
NM_004562.2:c.*1909G>A NP_004553.2:n.*1909G>A
NM_013987.2:c.*1909G>A NP_054642.2:n.*1909G>A
NM_013987.3:c.*1909G>A NP_054642.2:n.*1909G>A
NM_013988.2:c.*1909G>A NP_054643.2:n.*1909G>A
NM_013988.3:c.*1909G>A NP_054643.2:n.*1909G>A
ENST00000366898.5:c.*1909G>A ENSP00000355865.1:n.*1909G>A
ENST00000673871.1:c.3388G>A
ENST00000674006.1:n.2692G>A
ENST00000674436.1:n.2943G>A
XM_011535863.1:c.*1909G>A XP_011534165.1:n.*1909G>A
XM_017010908.1:c.*1909G>A XP_016866397.1:n.*1909G>A
XM_017010909.2:c.*1909G>A XP_016866398.1:n.*1909G>A
XM_024446449.1:c.*1909G>A XP_024302217.1:n.*1909G>A
XR_001743443.2:n.3499G>A