LDH info

Canonical Allele Identifier: CA252897
Gene: ATP7B HGNC NCBI

Identifiers and link-outs to other resources

ClinVar Variation Id: 3860
dbSNP Id: rs121907996

User contributed link-outs

Genomic Alleles

HGVS Genome Assembly
NC_000013.11:g.51946438C>T , CM000675.2:g.51946438C>T GRCh38
NC_000013.10:g.52520574C>T , CM000675.1:g.52520574C>T GRCh37
NC_000013.9:g.51418575C>T NCBI36
NG_008806.1:g.70057G>A

Transcript Alleles

HGVS Amino-acid change
NM_000053.3:c.2906G>A VV NP_000044.2:p.Arg969Gln
NM_001005918.2:c.2285G>A VV NP_001005918.1:p.Arg762Gln
NM_001243182.1:c.2573G>A VV NP_001230111.1:p.Arg858Gln
XM_005266423.2:c.2810G>A XP_005266480.1:p.Arg937Gln
XM_005266424.3:c.2810G>A XP_005266481.1:p.Arg937Gln
XM_005266427.2:c.2672G>A XP_005266484.1:p.Arg891Gln
XM_005266428.1:c.2654G>A XP_005266485.1:p.Arg885Gln
XM_005266430.3:c.2906G>A XP_005266487.1:p.Arg969Gln
XM_005266431.2:c.2870G>A XP_005266488.1:p.Arg957Gln
XM_005266432.2:c.2420G>A XP_005266489.1:p.Arg807Gln
XM_006719837.2:c.2810G>A XP_006719900.1:p.Arg937Gln
XM_006719838.1:c.722G>A XP_006719901.1:p.Arg241Gln
XM_006719839.1:c.722G>A XP_006719902.1:p.Arg241Gln
XM_011535117.1:c.2810G>A XP_011533419.1:p.Arg937Gln
XM_011535118.1:c.2771G>A XP_011533420.1:p.Arg924Gln
XM_011535119.1:c.2906G>A XP_011533421.1:p.Arg969Gln
XM_011535120.1:c.2492G>A XP_011533422.1:p.Arg831Gln
XM_011535121.1:c.2730+3569G>A XP_011533423.1:p.=
XM_011535122.1:c.1574G>A XP_011533424.1:p.Arg525Gln
XR_941601.1:n.3125G>A
XR_941602.1:n.3125G>A
XR_941603.1:n.3125G>A
XR_941604.1:n.3125G>A
NM_001330578.1:c.2672G>A VV NP_001317507.1:p.Arg891Gln
NM_001330579.1:c.2654G>A VV NP_001317508.1:p.Arg885Gln
XM_005266424.4:c.2810G>A XP_005266481.1:p.Arg937Gln
XM_005266430.4:c.2906G>A XP_005266487.1:p.Arg969Gln
XM_005266431.4:c.2870G>A XP_005266488.1:p.Arg957Gln
XM_006719837.3:c.2810G>A XP_006719900.1:p.Arg937Gln
XM_011535117.3:c.2810G>A XP_011533419.1:p.Arg937Gln
XM_017020627.1:c.2810G>A XP_016876116.1:p.Arg937Gln
ENST00000242839.8:c.2906G>A ENSP00000242839.4:p.Arg969Gln
ENST00000344297.8:c.2285G>A ENSP00000342559.5:p.Arg762Gln
ENST00000400366.5:c.2573G>A ENSP00000383217.3:p.Arg858Gln
ENST00000400370.8:c.1616G>A ENSP00000383221.3:p.Arg539Gln
ENST00000418097.7:c.2866-2147G>A ENSP00000393343.2:p.=
ENST00000448424.6:c.2672G>A ENSP00000416738.2:p.Arg891Gln
ENST00000466629.1:n.126G>A
ENST00000634296.1:n.867G>A
ENST00000634308.1:c.*7G>A ENSP00000489234.1:p.=
ENST00000634620.1:n.3650G>A
ENST00000634810.1:n.2251G>A
ENST00000634844.1:c.2762G>A ENSP00000489398.1:p.Arg921Gln
ENST00000635406.1:n.252G>A