LDH info

Canonical Allele Identifier: CA319876
Gene: PNPT1 HGNC NCBI

Identifiers and link-outs to other resources

ClinVar Variation Id: 215006
ClinVar RCV Id: RCV000195523
dbSNP Id: rs772153760

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.55679786C>T , CM000664.2:g.55679786C>T GRCh38
NC_000002.11:g.55906921C>T , CM000664.1:g.55906921C>T GRCh37
NC_000002.10:g.55760425C>T NCBI36
NG_033012.1:g.19125G>A

Transcript Alleles

HGVS Amino-acid change
NM_033109.4:c.575G>A VV NP_149100.2:p.Arg192Gln
XM_005264629.1:c.335G>A XP_005264686.1:p.Arg112Gln
XM_011533142.1:c.575G>A XP_011531444.1:p.Arg192Gln
XM_005264629.2:c.335G>A XP_005264686.1:p.Arg112Gln
XM_017005172.1:c.335G>A XP_016860661.1:p.Arg112Gln
XR_001739010.1:n.605G>A
NM_033109.5:c.575G>A VV MANE Preferred NP_149100.2:p.Arg192Gln
ENST00000260604.8:c.*130G>A ENSP00000260604.4:p.=
ENST00000415374.5:n.575G>A ENSP00000393953.1:p.Arg192Gln
ENST00000429805.1:c.*223G>A ENSP00000411994.1:p.=
ENST00000447944.6:c.575G>A ENSP00000400646.2:p.Arg192Gln