LDH info

Canonical Allele Identifier: CA252890
Gene: ATP7B HGNC NCBI

Identifiers and link-outs to other resources

ClinVar Variation Id: 3849
ClinVar RCV Id: RCV000004053
dbSNP Id: rs121907992

User contributed link-outs

Genomic Alleles

HGVS Genome Assembly
NC_000013.11:g.51937583C>T , CM000675.2:g.51937583C>T GRCh38
NC_000013.10:g.52511719C>T , CM000675.1:g.52511719C>T GRCh37
NC_000013.9:g.51409720C>T NCBI36
NG_008806.1:g.78912G>A

Transcript Alleles

HGVS Amino-acid change
NM_000053.3:c.3796G>A VV NP_000044.2:p.Gly1266Arg
NM_001005918.2:c.3175G>A VV NP_001005918.1:p.Gly1059Arg
NM_001243182.1:c.3463G>A VV NP_001230111.1:p.Gly1155Arg
XM_005266423.2:c.3700G>A XP_005266480.1:p.Gly1234Arg
XM_005266424.3:c.3700G>A XP_005266481.1:p.Gly1234Arg
XM_005266427.2:c.3562G>A XP_005266484.1:p.Gly1188Arg
XM_005266428.1:c.3544G>A XP_005266485.1:p.Gly1182Arg
XM_005266430.3:c.3796G>A XP_005266487.1:p.Gly1266Arg
XM_005266431.2:c.3760G>A XP_005266488.1:p.Gly1254Arg
XM_005266432.2:c.3310G>A XP_005266489.1:p.Gly1104Arg
XM_006719837.2:c.3700G>A XP_006719900.1:p.Gly1234Arg
XM_006719838.1:c.1612G>A XP_006719901.1:p.Gly538Arg
XM_006719839.1:c.1429G>A XP_006719902.1:p.Gly477Arg
XM_011535117.1:c.3700G>A XP_011533419.1:p.Gly1234Arg
XM_011535118.1:c.3661G>A XP_011533420.1:p.Gly1221Arg
XM_011535119.1:c.3613G>A XP_011533421.1:p.Gly1205Arg
XM_011535120.1:c.3382G>A XP_011533422.1:p.Gly1128Arg
XM_011535121.1:c.3283G>A XP_011533423.1:p.Gly1095Arg
XM_011535122.1:c.2464G>A XP_011533424.1:p.Gly822Arg
XR_941601.1:n.4015G>A
XR_941602.1:n.4015G>A
XR_941603.1:n.4015G>A
XR_941604.1:n.4015G>A
NM_001330578.1:c.3562G>A VV NP_001317507.1:p.Gly1188Arg
NM_001330579.1:c.3544G>A VV NP_001317508.1:p.Gly1182Arg
XM_005266424.4:c.3700G>A XP_005266481.1:p.Gly1234Arg
XM_005266430.4:c.3796G>A XP_005266487.1:p.Gly1266Arg
XM_005266431.4:c.3760G>A XP_005266488.1:p.Gly1254Arg
XM_006719837.3:c.3700G>A XP_006719900.1:p.Gly1234Arg
XM_011535117.3:c.3700G>A XP_011533419.1:p.Gly1234Arg
XM_017020627.1:c.3700G>A XP_016876116.1:p.Gly1234Arg
ENST00000242839.8:c.3796G>A ENSP00000242839.4:p.Gly1266Arg
ENST00000344297.8:c.3175G>A ENSP00000342559.5:p.Gly1059Arg
ENST00000400366.5:c.3463G>A ENSP00000383217.3:p.Gly1155Arg
ENST00000400370.8:c.2506G>A ENSP00000383221.3:p.Gly836Arg
ENST00000418097.7:c.3601G>A ENSP00000393343.2:p.Gly1201Arg
ENST00000448424.6:c.3562G>A ENSP00000416738.2:p.Gly1188Arg
ENST00000634296.1:n.1574G>A
ENST00000634308.1:c.*897G>A ENSP00000489234.1:p.=
ENST00000634620.1:n.4540G>A
ENST00000634810.1:n.3141G>A
ENST00000634844.1:c.3652G>A ENSP00000489398.1:p.Gly1218Arg