LDH info

Canonical Allele Identifier: CA254081
Gene: PARK2 HGNC NCBI

Identifiers and link-outs to other resources

ClinVar Variation Id: 7042
dbSNP Id: rs137853056

User contributed link-outs

Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.161350139C>T , CM000668.2:g.161350139C>T GRCh38
NC_000006.11:g.161771171C>T , CM000668.1:g.161771171C>T GRCh37
NC_000006.10:g.161691161C>T NCBI36
NG_008289.1:g.1382664G>A
NG_008289.2:g.1382664G>A

Transcript Alleles

HGVS Amino-acid change
NM_004562.2:c.1358G>A VV NP_004553.2:p.Trp453Ter
NM_013987.2:c.1274G>A VV NP_054642.2:p.Trp425Ter
NM_013988.2:c.911G>A VV NP_054643.2:p.Trp304Ter
XM_011535863.1:c.1355G>A XP_011534165.1:p.Trp452Ter
XM_017010908.1:c.1472G>A XP_016866397.1:p.Trp491Ter
XM_017010909.2:c.1118G>A XP_016866398.1:p.Trp373Ter
XM_024446449.1:c.1121G>A XP_024302217.1:p.Trp374Ter
XR_001743443.2:n.1550G>A
NM_004562.3:c.1358G>A VV MANE Preferred NP_004553.2:p.Trp453Ter
ENST00000338468.7:c.785G>A ENSP00000343589.3:p.Trp262Ter
ENST00000366894.5:c.785G>A ENSP00000355860.1:p.Trp262Ter
ENST00000366896.5:c.911G>A ENSP00000355862.1:p.Trp304Ter
ENST00000366897.5:c.1274G>A ENSP00000355863.1:p.Trp425Ter
ENST00000366898.5:c.1358G>A ENSP00000355865.1:p.Trp453Ter
ENST00000479615.5:c.*134G>A ENSP00000434414.1:p.=
ENST00000610470.4:n.491G>A ENSP00000483773.1:p.Trp164Ter