LDH info

Canonical Allele Identifier: CA117241

Identifiers and link-outs to other resources

ClinVar Variation Id: 5062
dbSNP Id: rs696217

User contributed link-outs

Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.10289773G>T , CM000665.2:g.10289773G>T GRCh38
NC_000003.11:g.10331457G>T , CM000665.1:g.10331457G>T GRCh37
NC_000003.10:g.10306457G>T NCBI36
NG_011560.1:g.8175C>A
NG_033090.1:g.13822G>T
NG_033090.2:g.13822G>T

Transcript Alleles

HGVS Amino-acid change
NM_001134941.2:c.211C>A (GHRL) VV NP_001128413.1:p.Leu71Met
NM_001134944.1:c.178C>A (GHRL) VV NP_001128416.1:p.Leu60Met
NM_001134945.1:c.175C>A (GHRL) VV NP_001128417.1:p.Leu59Met
NM_001134946.1:c.73-2961C>A (GHRL) VV NP_001128418.1:p.=
NM_001302821.1:c.214C>A (GHRL) VV NP_001289750.1:p.Leu72Met
NM_001302822.1:c.214C>A (GHRL) VV NP_001289751.1:p.Leu72Met
NM_001302823.1:c.211C>A (GHRL) VV NP_001289752.1:p.Leu71Met
NM_001302824.1:c.214C>A (GHRL) VV NP_001289753.1:p.Leu72Met
NM_001302825.1:c.214C>A (GHRL) VV NP_001289754.1:p.Leu72Met
NM_016362.4:c.214C>A (GHRL) VV NP_057446.1:p.Leu72Met
NR_004431.3:n.383+1671G>T (GHRLOS)
NR_024144.2:n.466+1671G>T (GHRLOS)
NR_024145.2:n.555+1671G>T (GHRLOS)
NR_073566.1:n.566+1667G>T (GHRLOS)
NR_073567.1:n.554+1671G>T (GHRLOS)
NR_073568.1:n.409+1671G>T (GHRLOS)
NR_126505.1:n.106+3069C>A (GHRL)
XM_017006612.2:c.214C>A (GHRL) XP_016862101.1:p.Leu72Met
XM_017006613.2:c.211C>A (GHRL) XP_016862102.1:p.Leu71Met
XM_024453594.1:c.214C>A (GHRL) XP_024309362.1:p.Leu72Met
NM_001134941.3:c.211C>A (GHRL) VV NP_001128413.1:p.Leu71Met
NM_001134944.2:c.178C>A (GHRL) VV NP_001128416.1:p.Leu60Met
NM_001134945.2:c.175C>A (GHRL) VV NP_001128417.1:p.Leu59Met
NM_001134946.2:c.73-2961C>A (GHRL) VV NP_001128418.1:p.=
NM_001302821.2:c.214C>A (GHRL) VV NP_001289750.1:p.Leu72Met
NM_001302822.2:c.214C>A (GHRL) VV NP_001289751.1:p.Leu72Met
NM_001302823.2:c.211C>A (GHRL) VV NP_001289752.1:p.Leu71Met
NM_001302824.2:c.214C>A (GHRL) VV NP_001289753.1:p.Leu72Met
NM_001302825.2:c.214C>A (GHRL) VV NP_001289754.1:p.Leu72Met
NM_016362.5:c.214C>A (GHRL) VV NP_057446.1:p.Leu72Met
NR_126505.2:n.106+3069C>A (GHRL)
ENST00000287656.11:c.211C>A ENSP00000287656.7:p.Leu71Met
ENST00000335542.12:c.214C>A ENSP00000335074.8:p.Leu72Met
ENST00000422159.5:c.214C>A ENSP00000405464.1:p.Leu72Met
ENST00000429122.1:c.214C>A ENSP00000414819.1:p.Leu72Met
ENST00000430179.5:c.211C>A ENSP00000399922.1:p.Leu71Met
ENST00000437422.6:c.178C>A ENSP00000416768.2:p.Leu60Met
ENST00000439975.6:c.73-2961C>A ENSP00000403725.2:p.=
ENST00000446937.2:c.72+3069C>A ENSP00000394923.2:p.=
ENST00000449238.6:c.175C>A ENSP00000388145.2:p.Leu59Met
ENST00000457360.5:c.214C>A ENSP00000391406.1:p.Leu72Met
ENST00000475759.5:n.35C>A
ENST00000476283.1:n.35C>A
ENST00000481287.5:n.391C>A
ENST00000491589.5:n.305C>A