LDH info

Canonical Allele Identifier: CA130567
Gene: PNPT1 HGNC NCBI

Identifiers and link-outs to other resources

ClinVar Variation Id: 39802
ClinVar RCV Id: RCV000033023
dbSNP Id: rs397514599

User contributed link-outs

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.55656148T>C , CM000664.2:g.55656148T>C GRCh38
NC_000002.11:g.55883283T>C , CM000664.1:g.55883283T>C GRCh37
NC_000002.10:g.55736787T>C NCBI36
NG_033012.1:g.42763A>G

Transcript Alleles

HGVS Amino-acid change
NM_033109.4:c.1424A>G VV NP_149100.2:p.Glu475Gly
XM_005264629.1:c.1184A>G XP_005264686.1:p.Glu395Gly
XM_011533142.1:c.1424A>G XP_011531444.1:p.Glu475Gly
XM_005264629.2:c.1184A>G XP_005264686.1:p.Glu395Gly
XM_017005172.1:c.1184A>G XP_016860661.1:p.Glu395Gly
XR_001739010.1:n.1454A>G
NM_033109.5:c.1424A>G VV MANE Preferred NP_149100.2:p.Glu475Gly
ENST00000260604.8:c.*979A>G ENSP00000260604.4:p.=
ENST00000415374.5:n.1424A>G ENSP00000393953.1:p.Glu475Gly
ENST00000415489.1:n.431A>G
ENST00000447944.6:c.1424A>G ENSP00000400646.2:p.Glu475Gly