LDH info

Canonical Allele Identifier: CA1668443
Gene: PNPT1 HGNC NCBI

Identifiers and link-outs to other resources

ClinVar Variation Id: 427125
ClinVar RCV Id: RCV000489241
dbSNP Id: rs774425075

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.55680855C>T , CM000664.2:g.55680855C>T GRCh38
NC_000002.11:g.55907990C>T , CM000664.1:g.55907990C>T GRCh37
NC_000002.10:g.55761494C>T NCBI36
NG_033012.1:g.18056G>A

Transcript Alleles

HGVS Amino-acid change
NM_033109.4:c.517G>A VV NP_149100.2:p.Ala173Thr
XM_005264629.1:c.277G>A XP_005264686.1:p.Ala93Thr
XM_011533142.1:c.517G>A XP_011531444.1:p.Ala173Thr
XM_005264629.2:c.277G>A XP_005264686.1:p.Ala93Thr
XM_017005172.1:c.277G>A XP_016860661.1:p.Ala93Thr
XR_001739010.1:n.547G>A
NM_033109.5:c.517G>A VV MANE Preferred NP_149100.2:p.Ala173Thr
ENST00000260604.8:c.517G>A ENSP00000260604.4:p.Gly173Ser
ENST00000415374.5:n.517G>A ENSP00000393953.1:p.Ala173Thr
ENST00000429805.1:c.*165G>A ENSP00000411994.1:p.=
ENST00000447944.6:c.517G>A ENSP00000400646.2:p.Ala173Thr