LDH info

Canonical Allele Identifier: CA252876
Gene: UROS HGNC NCBI

Identifiers and link-outs to other resources

ClinVar Variation Id: 3769
ClinVar RCV Id: RCV000003967
dbSNP Id: rs121908021

User contributed link-outs

Genomic Alleles

HGVS Genome Assembly
NC_000010.11:g.125788923G>T , CM000672.2:g.125788923G>T GRCh38
NC_000010.10:g.127477492G>T , CM000672.1:g.127477492G>T GRCh37
NC_000010.9:g.127467482G>T NCBI36
NG_011557.1:g.39346C>A
NG_011557.2:g.39346C>A

Transcript Alleles

HGVS Amino-acid change
NM_000375.2:c.743C>A VV NP_000366.1:p.Pro248Gln
XM_005270137.2:c.824C>A XP_005270194.1:p.Pro275Gln
XM_005270138.2:c.743C>A XP_005270195.1:p.Pro248Gln
XM_005270139.2:c.661-3084C>A XP_005270196.1:p.=
XM_006717960.2:c.824C>A XP_006718023.1:p.Pro275Gln
XM_011540127.1:c.661-3663C>A XP_011538429.1:p.=
XR_246103.2:n.923C>A
XR_945810.1:n.1153C>A
NM_000375.3:c.743C>A VV MANE Preferred NP_000366.1:p.Pro248Gln
NM_001324036.1:c.824C>A VV NP_001310965.1:p.Pro275Gln
NM_001324037.1:c.743C>A VV NP_001310966.1:p.Pro248Gln
NM_001324038.1:c.662C>A VV NP_001310967.1:p.Pro221Gln
NR_136675.1:n.828C>A
NR_136676.1:n.1255C>A
NR_136677.1:n.927-3084C>A
NR_136678.1:n.739C>A
XM_011540127.2:c.661-3663C>A XP_011538429.1:p.=
XM_017016611.2:c.824C>A XP_016872100.2:p.Pro275Gln
XM_017016612.2:c.661-3084C>A XP_016872101.1:p.=
XM_024448154.1:c.743C>A XP_024303922.1:p.Pro248Gln
XR_002957010.1:n.2082C>A
XR_246103.3:n.938C>A
XR_945810.2:n.1168C>A
ENST00000368786.5:c.743C>A ENSP00000357775.1:p.Pro248Gln
ENST00000368797.8:c.743C>A ENSP00000357787.4:p.Pro248Gln
ENST00000464267.1:n.840C>A
ENST00000465577.5:n.385C>A
ENST00000470483.1:n.431C>A
ENST00000484541.5:n.516C>A
ENST00000616800.4:n.161-3663C>A
ENST00000622016.4:n.241-3084C>A ENSP00000483041.1:p.=