LDH info

Canonical Allele Identifier: CA252874
Gene: UROS HGNC NCBI

Identifiers and link-outs to other resources

ClinVar Variation Id: 3767
ClinVar RCV Id: RCV000003965
dbSNP Id: rs373864821

User contributed link-outs

Genomic Alleles

HGVS Genome Assembly
NC_000010.11:g.125816436C>T , CM000672.2:g.125816436C>T GRCh38
NC_000010.10:g.127505005C>T , CM000672.1:g.127505005C>T GRCh37
NC_000010.9:g.127494995C>T NCBI36
NG_011557.1:g.11833G>A
NG_011557.2:g.11833G>A

Transcript Alleles

HGVS Amino-acid change
NM_000375.2:c.63+1G>A VV NP_000366.1:p.=
XM_005270137.2:c.63+1G>A XP_005270194.1:p.=
XM_005270138.2:c.63+1G>A XP_005270195.1:p.=
XM_005270139.2:c.63+1G>A XP_005270196.1:p.=
XM_005270140.3:c.63+1G>A XP_005270197.1:p.=
XM_005270141.1:c.63+1G>A XP_005270198.1:p.=
XM_006717960.2:c.63+1G>A XP_006718023.1:p.=
XM_011540126.1:c.63+1G>A XP_011538428.1:p.=
XM_011540127.1:c.63+1G>A XP_011538429.1:p.=
XR_246103.2:n.171+1G>A
XR_945809.1:n.171+1G>A
XR_945810.1:n.171+1G>A
NM_000375.3:c.63+1G>A VV MANE Preferred NP_000366.1:p.=
NM_001324036.1:c.63+1G>A VV NP_001310965.1:p.=
NM_001324037.1:c.63+1G>A VV NP_001310966.1:p.=
NM_001324038.1:c.63+1G>A VV NP_001310967.1:p.=
NM_001324039.1:c.63+1G>A VV NP_001310968.1:p.=
NR_136675.1:n.329+1G>A
NR_136676.1:n.329+1G>A
NR_136677.1:n.329+1G>A
NR_136678.1:n.241-4148G>A
XM_005270140.5:c.63+1G>A XP_005270197.1:p.=
XM_011540127.2:c.63+1G>A XP_011538429.1:p.=
XM_017016611.2:c.63+1G>A XP_016872100.2:p.=
XM_017016612.2:c.63+1G>A XP_016872101.1:p.=
XM_024448154.1:c.63+1G>A XP_024303922.1:p.=
XM_024448155.1:c.63+1G>A XP_024303923.1:p.=
XR_001747196.2:n.186+1G>A
XR_001747197.2:n.186+1G>A
XR_002957009.1:n.186+1G>A
XR_002957010.1:n.127+1G>A
XR_246103.3:n.186+1G>A
XR_945810.2:n.186+1G>A
NM_001324036.2:c.63+1G>A VV NP_001310965.1:p.=
NM_001324037.2:c.63+1G>A VV NP_001310966.1:p.=
NM_001324038.2:c.63+1G>A VV NP_001310967.1:p.=
NR_136675.2:n.319+1G>A
NR_136676.2:n.319+1G>A
NR_136678.2:n.231-4148G>A
ENST00000368774.1:c.63+1G>A ENSP00000357763.1:p.=
ENST00000368778.7:c.63+1G>A ENSP00000357767.3:p.=
ENST00000368786.5:c.63+1G>A ENSP00000357775.1:p.=
ENST00000368797.8:c.63+1G>A ENSP00000357787.4:p.=
ENST00000420761.5:c.63+1G>A ENSP00000414833.1:p.=