LDH info

Canonical Allele Identifier: CA344926
Gene: UROS HGNC NCBI

Identifiers and link-outs to other resources

ClinVar Variation Id: 65601
ClinVar RCV Id: RCV000055809
dbSNP Id: rs397515528

User contributed link-outs

Genomic Alleles

HGVS Genome Assembly
NC_000010.11:g.125812222G>A , CM000672.2:g.125812222G>A GRCh38
NC_000010.10:g.127500791G>A , CM000672.1:g.127500791G>A GRCh37
NC_000010.9:g.127490781G>A NCBI36
NG_011557.1:g.16047C>T
NG_011557.2:g.16047C>T

Transcript Alleles

HGVS Amino-acid change
NM_000375.2:c.311C>T VV NP_000366.1:p.Ala104Val
XM_005270137.2:c.311C>T XP_005270194.1:p.Ala104Val
XM_005270138.2:c.311C>T XP_005270195.1:p.Ala104Val
XM_005270139.2:c.311C>T XP_005270196.1:p.Ala104Val
XM_005270140.3:c.311C>T XP_005270197.1:p.Ala104Val
XM_005270141.1:c.311C>T XP_005270198.1:p.Ala104Val
XM_006717960.2:c.311C>T XP_006718023.1:p.Ala104Val
XM_011540126.1:c.311C>T XP_011538428.1:p.Ala104Val
XM_011540127.1:c.311C>T XP_011538429.1:p.Ala104Val
XR_246103.2:n.419C>T
XR_945809.1:n.419C>T
XR_945810.1:n.419C>T
NM_000375.3:c.311C>T VV MANE Preferred NP_000366.1:p.Ala104Val
NM_001324036.1:c.311C>T VV NP_001310965.1:p.Ala104Val
NM_001324037.1:c.311C>T VV NP_001310966.1:p.Ala104Val
NM_001324038.1:c.311C>T VV NP_001310967.1:p.Ala104Val
NM_001324039.1:c.311C>T VV NP_001310968.1:p.Ala104Val
NR_136675.1:n.396C>T
NR_136676.1:n.577C>T
NR_136677.1:n.577C>T
NR_136678.1:n.307C>T
XM_005270140.5:c.311C>T XP_005270197.1:p.Ala104Val
XM_011540127.2:c.311C>T XP_011538429.1:p.Ala104Val
XM_017016611.2:c.311C>T XP_016872100.2:p.Ala104Val
XM_017016612.2:c.311C>T XP_016872101.1:p.Ala104Val
XM_024448154.1:c.311C>T XP_024303922.1:p.Ala104Val
XM_024448155.1:c.311C>T XP_024303923.1:p.Ala104Val
XR_001747196.2:n.434C>T
XR_001747197.2:n.434C>T
XR_002957009.1:n.434C>T
XR_002957010.1:n.375C>T
XR_246103.3:n.434C>T
XR_945810.2:n.434C>T
ENST00000368774.1:c.311C>T ENSP00000357763.1:p.Ala104Val
ENST00000368778.7:c.311C>T ENSP00000357767.3:p.Ala104Val
ENST00000368786.5:c.311C>T ENSP00000357775.1:p.Ala104Val
ENST00000368797.8:c.311C>T ENSP00000357787.4:p.Ala104Val
ENST00000420761.5:c.227C>T ENSP00000414833.1:p.Ala76Val