LDH info

Canonical Allele Identifier: CA114958
Gene: EHBP1 HGNC NCBI

Identifiers and link-outs to other resources

ClinVar Variation Id: 1364
ClinVar RCV Id: RCV000001429
dbSNP Id: rs721048

User contributed link-outs

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.62904596G>A , CM000664.2:g.62904596G>A GRCh38
NC_000002.11:g.63131731G>A , CM000664.1:g.63131731G>A GRCh37
NC_000002.10:g.62985235G>A NCBI36
NG_016758.1:g.235746G>A
NG_016758.2:g.235746G>A

Transcript Alleles

HGVS Amino-acid change
NM_001142614.1:c.1185+30064G>A VV NP_001136086.1:p.=
NM_001142615.2:c.1185+30064G>A VV NP_001136087.1:p.=
NM_001142616.1:c.1185+30064G>A VV NP_001136088.1:p.=
NM_015252.3:c.1290+30064G>A VV NP_056067.2:p.=
XM_005264225.1:c.1290+30064G>A XP_005264282.1:p.=
XM_005264226.1:c.1290+30064G>A XP_005264283.1:p.=
XM_005264227.1:c.1185+30064G>A XP_005264284.1:p.=
XM_005264228.1:c.1290+30064G>A XP_005264285.1:p.=
XM_006711971.1:c.1290+30064G>A XP_006712034.1:p.=
XM_011532713.1:c.1290+30064G>A XP_011531015.1:p.=
XM_011532714.1:c.1290+30064G>A XP_011531016.1:p.=
XM_011532715.1:c.1290+30064G>A XP_011531017.1:p.=
XM_011532716.1:c.1290+30064G>A XP_011531018.1:p.=
XM_011532717.1:c.1290+30064G>A XP_011531019.1:p.=
XM_011532718.1:c.930+30064G>A XP_011531020.1:p.=
NM_001142614.2:c.1185+30064G>A VV NP_001136086.1:p.=
NM_001142616.2:c.1185+30064G>A VV NP_001136088.1:p.=
NM_001354212.1:c.1290+30064G>A VV NP_001341141.1:p.=
NM_001354213.1:c.1290+30064G>A VV NP_001341142.1:p.=
NM_001354214.1:c.1290+30064G>A VV NP_001341143.1:p.=
NM_001354215.1:c.1290+30064G>A VV NP_001341144.1:p.=
NM_001354216.1:c.1290+30064G>A VV NP_001341145.1:p.=
NM_001354217.1:c.1290+30064G>A VV NP_001341146.1:p.=
NM_001354218.1:c.1185+30064G>A VV NP_001341147.1:p.=
NM_001354219.1:c.1185+30064G>A VV NP_001341148.1:p.=
NM_001354220.1:c.1185+30064G>A VV NP_001341149.1:p.=
NM_001354221.1:c.1290+30064G>A VV NP_001341150.1:p.=
NM_001354222.1:c.1185+30064G>A VV NP_001341151.1:p.=
NM_015252.4:c.1290+30064G>A VV NP_056067.2:p.=
XM_005264226.3:c.1290+30064G>A XP_005264283.1:p.=
XM_006711971.3:c.1290+30064G>A XP_006712034.1:p.=
XM_011532715.3:c.1290+30064G>A XP_011531017.1:p.=
XM_011532716.3:c.1290+30064G>A XP_011531018.1:p.=
XM_011532717.2:c.1290+30064G>A XP_011531019.1:p.=
XM_011532718.3:c.930+30064G>A XP_011531020.1:p.=
XM_017003650.2:c.1290+30064G>A XP_016859139.1:p.=
XM_017003654.2:c.1290+30064G>A XP_016859143.1:p.=
XM_024452766.1:c.825+30064G>A XP_024308534.1:p.=
NM_001142615.3:c.1185+30064G>A VV NP_001136087.1:p.=
NM_001142616.3:c.1185+30064G>A VV MANE Preferred NP_001136088.1:p.=
NM_001354216.2:c.1290+30064G>A VV NP_001341145.1:p.=
NM_001354219.2:c.1185+30064G>A VV NP_001341148.1:p.=
NM_001354221.2:c.1290+30064G>A VV NP_001341150.1:p.=
NM_001354222.2:c.1185+30064G>A VV NP_001341151.1:p.=
NM_015252.5:c.1290+30064G>A VV NP_056067.2:p.=
ENST00000263991.9:c.1290+30064G>A ENSP00000263991.5:p.=
ENST00000405015.7:c.1185+30064G>A ENSP00000384143.3:p.=
ENST00000405289.5:n.1185+30064G>A ENSP00000385524.1:p.=
ENST00000431489.5:c.1185+30064G>A ENSP00000403783.1:p.=