LDH info

Canonical Allele Identifier: CA126218
Gene: NR3C1 HGNC NCBI

Identifiers and link-outs to other resources

ClinVar Variation Id: 16147
ClinVar RCV Id: RCV000017529
dbSNP Id: rs104893908

User contributed link-outs

Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.143295561T>A , CM000667.2:g.143295561T>A GRCh38
NC_000005.9:g.142675126T>A , CM000667.1:g.142675126T>A GRCh37
NC_000005.8:g.142655319T>A NCBI36
NG_009062.1:g.144952A>T

Transcript Alleles

HGVS Amino-acid change
NM_000176.2:c.1922A>T VV NP_000167.1:p.Asp641Val
NM_001018074.1:c.1922A>T VV NP_001018084.1:p.Asp641Val
NM_001018075.1:c.1922A>T VV NP_001018085.1:p.Asp641Val
NM_001018076.1:c.1922A>T VV NP_001018086.1:p.Asp641Val
NM_001018077.1:c.1922A>T VV NP_001018087.1:p.Asp641Val
NM_001020825.1:c.1922A>T VV NP_001018661.1:p.Asp641Val
NM_001024094.1:c.1925A>T VV NP_001019265.1:p.Asp642Val
NM_001204258.1:c.1844A>T VV NP_001191187.1:p.Asp615Val
NM_001204259.1:c.1667A>T VV NP_001191188.1:p.Asp556Val
NM_001204260.1:c.1655A>T VV NP_001191189.1:p.Asp552Val
NM_001204261.1:c.1631A>T VV NP_001191190.1:p.Asp544Val
NM_001204262.1:c.977A>T VV NP_001191191.1:p.Asp326Val
NM_001204263.1:c.932A>T VV NP_001191192.1:p.Asp311Val
NM_001204264.1:c.917A>T VV NP_001191193.1:p.Asp306Val
NM_001204265.1:c.1922A>T VV NP_001191194.1:p.Asp641Val
XM_005268419.2:c.1925A>T XP_005268476.1:p.Asp642Val
XM_005268420.3:c.1925A>T XP_005268477.1:p.Asp642Val
XM_005268422.2:c.1925A>T XP_005268479.1:p.Asp642Val
XM_005268423.2:c.1925A>T XP_005268480.1:p.Asp642Val
XM_011537637.1:c.731A>T XP_011535939.1:p.Asp244Val
NR_157096.1:n.845A>T
XM_005268419.4:c.1925A>T XP_005268476.1:p.Asp642Val
XM_005268420.4:c.1925A>T XP_005268477.1:p.Asp642Val
XM_005268422.3:c.1925A>T XP_005268479.1:p.Asp642Val
XM_005268423.3:c.1925A>T XP_005268480.1:p.Asp642Val
XM_011537637.3:c.731A>T XP_011535939.1:p.Asp244Val
XM_017009397.1:c.1922A>T XP_016864886.1:p.Asp641Val
XM_017009398.1:c.1922A>T XP_016864887.1:p.Asp641Val
NM_000176.3:c.1922A>T VV NP_000167.1:p.Asp641Val
NM_001364180.1:c.1922A>T VV NP_001351109.1:p.Asp641Val
NM_001364181.1:c.1922A>T VV NP_001351110.1:p.Asp641Val
NM_001364182.1:c.1922A>T VV NP_001351111.1:p.Asp641Val
NM_001364183.1:c.1925A>T VV NP_001351112.1:p.Asp642Val
NM_001364184.1:c.1925A>T VV NP_001351113.1:p.Asp642Val
NM_001364185.1:c.1925A>T VV NP_001351114.1:p.Asp642Val
NM_001018076.2:c.1922A>T VV NP_001018086.1:p.Asp641Val
NM_001020825.2:c.1922A>T VV NP_001018661.1:p.Asp641Val
NM_001024094.2:c.1925A>T VV NP_001019265.1:p.Asp642Val
NM_001204258.2:c.1844A>T VV NP_001191187.1:p.Asp615Val
NM_001204259.2:c.1667A>T VV NP_001191188.1:p.Asp556Val
NM_001204260.2:c.1655A>T VV NP_001191189.1:p.Asp552Val
NM_001204261.2:c.1631A>T VV NP_001191190.1:p.Asp544Val
NM_001204262.2:c.977A>T VV NP_001191191.1:p.Asp326Val
NM_001204263.2:c.932A>T VV NP_001191192.1:p.Asp311Val
NM_001204264.2:c.917A>T VV NP_001191193.1:p.Asp306Val
NM_001204265.2:c.1922A>T VV NP_001191194.1:p.Asp641Val
NM_001364180.2:c.1922A>T VV NP_001351109.1:p.Asp641Val
NM_001364181.2:c.1922A>T VV NP_001351110.1:p.Asp641Val
NM_001364183.2:c.1925A>T VV NP_001351112.1:p.Asp642Val
NM_001364184.2:c.1925A>T VV NP_001351113.1:p.Asp642Val
NR_157096.2:n.845A>T
ENST00000231509.7:c.1925A>T ENSP00000231509.3:p.Asp642Val
ENST00000343796.6:c.1922A>T ENSP00000343205.2:p.Asp641Val
ENST00000394464.6:c.1922A>T ENSP00000377977.2:p.Asp641Val
ENST00000394466.6:c.1925A>T ENSP00000377979.2:p.Asp642Val
ENST00000415690.6:c.1922A>T ENSP00000387672.2:p.Asp641Val
ENST00000424646.6:c.1844A>T ENSP00000405282.2:p.Asp615Val
ENST00000503201.1:c.1922A>T ENSP00000427672.1:p.Asp641Val
ENST00000504572.5:c.1925A>T ENSP00000422518.1:p.Asp642Val