Canonical Allele Identifier: CA366477439
Gene: PRKN HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.162443437A>C , CM000668.2:g.162443437A>C GRCh38
NC_000006.11:g.162864469A>C , CM000668.1:g.162864469A>C GRCh37
NC_000006.10:g.162784459A>C NCBI36
NG_008289.1:g.289366T>G
NG_008289.2:g.289366T>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000338468.8:c.44T>G ENSP00000343589.4:p.Val15Gly
ENST00000366894.6:c.44T>G ENSP00000355860.2:p.Val15Gly
ENST00000366898.6:c.44T>G MANE Select ENSP00000355865.1:p.Val15Gly
ENST00000648830.1:n.211T>G
ENST00000673871.1:c.39T>G
ENST00000674232.1:n.62T>G
ENST00000674259.1:n.101T>G
ENST00000674493.1:n.61T>G
ENST00000674501.1:n.151T>G
ENST00000338468.7:c.-408T>G ENSP00000343589.3:n.-408T>G
ENST00000366892.5:c.44T>G ENSP00000355858.1:p.Val15Gly
ENST00000366894.5:c.-289T>G ENSP00000355860.1:n.-289T>G
ENST00000366896.5:c.44T>G ENSP00000355862.1:p.Val15Gly
ENST00000366897.5:c.44T>G ENSP00000355863.1:p.Val15Gly
ENST00000366898.5:c.44T>G ENSP00000355865.1:p.Val15Gly
ENST00000479615.5:c.-66-180672T>G ENSP00000434414.1:n.-66-180672T>G
NM_004562.2:c.44T>G NP_004553.2:p.Val15Gly
NM_013987.2:c.44T>G NP_054642.2:p.Val15Gly
NM_013988.2:c.44T>G NP_054643.2:p.Val15Gly
XM_011535863.1:c.44T>G XP_011534165.1:p.Val15Gly
XM_011535864.1:c.44T>G XP_011534166.1:p.Val15Gly
XM_011535865.1:c.44T>G XP_011534167.1:p.Val15Gly
XM_011535866.1:c.44T>G XP_011534168.1:p.Val15Gly
XM_011535867.1:c.44T>G XP_011534169.1:p.Val15Gly
XM_017010908.1:c.158T>G XP_016866397.1:p.Val53Gly
XM_017010909.2:c.-66-180672T>G XP_016866398.1:n.-66-180672T>G
XM_024446449.1:c.-66-180672T>G XP_024302217.1:n.-66-180672T>G
XR_001743443.2:n.150T>G
NM_004562.3:c.44T>G MANE Select NP_004553.2:p.Val15Gly
NM_013987.3:c.44T>G NP_054642.2:p.Val15Gly
NM_013988.3:c.44T>G NP_054643.2:p.Val15Gly