LDH info

Canonical Allele Identifier: CA16041678
Gene: ATP7B HGNC NCBI

Identifiers and link-outs to other resources

ClinVar Variation Id: 370196
ClinVar RCV Id: RCV000409337
dbSNP Id: rs1057516305

Genomic Alleles

HGVS Genome Assembly
NC_000013.11:g.51970663C>A , CM000675.2:g.51970663C>A GRCh38
NC_000013.10:g.52544799C>A , CM000675.1:g.52544799C>A GRCh37
NC_000013.9:g.51442800C>A NCBI36
NG_008806.1:g.45832G>T

Transcript Alleles

HGVS Amino-acid change
NM_000053.3:c.1372G>T VV NP_000044.2:p.Glu458Ter
NM_001005918.2:c.1372G>T VV NP_001005918.1:p.Glu458Ter
NM_001243182.1:c.1039G>T VV NP_001230111.1:p.Glu347Ter
XM_005266423.2:c.1276G>T XP_005266480.1:p.Glu426Ter
XM_005266424.3:c.1276G>T XP_005266481.1:p.Glu426Ter
XM_005266427.2:c.1372G>T XP_005266484.1:p.Glu458Ter
XM_005266428.1:c.1372G>T XP_005266485.1:p.Glu458Ter
XM_005266430.3:c.1372G>T XP_005266487.1:p.Glu458Ter
XM_005266431.2:c.1336G>T XP_005266488.1:p.Glu446Ter
XM_005266432.2:c.1372G>T XP_005266489.1:p.Glu458Ter
XM_006719837.2:c.1276G>T XP_006719900.1:p.Glu426Ter
XM_011535117.1:c.1276G>T XP_011533419.1:p.Glu426Ter
XM_011535118.1:c.1372G>T XP_011533420.1:p.Glu458Ter
XM_011535119.1:c.1372G>T XP_011533421.1:p.Glu458Ter
XM_011535120.1:c.1372G>T XP_011533422.1:p.Glu458Ter
XM_011535121.1:c.1372G>T XP_011533423.1:p.Glu458Ter
XM_011535122.1:c.40G>T XP_011533424.1:p.Glu14Ter
XR_941601.1:n.1591G>T
XR_941602.1:n.1591G>T
XR_941603.1:n.1591G>T
XR_941604.1:n.1591G>T
NM_001330578.1:c.1372G>T VV NP_001317507.1:p.Glu458Ter
NM_001330579.1:c.1372G>T VV NP_001317508.1:p.Glu458Ter
XM_005266424.4:c.1276G>T XP_005266481.1:p.Glu426Ter
XM_005266430.4:c.1372G>T XP_005266487.1:p.Glu458Ter
XM_005266431.4:c.1336G>T XP_005266488.1:p.Glu446Ter
XM_006719837.3:c.1276G>T XP_006719900.1:p.Glu426Ter
XM_011535117.3:c.1276G>T XP_011533419.1:p.Glu426Ter
XM_017020627.1:c.1276G>T XP_016876116.1:p.Glu426Ter
NM_000053.4:c.1372G>T VV MANE Preferred NP_000044.2:p.Glu458Ter
NM_001005918.3:c.1372G>T VV NP_001005918.1:p.Glu458Ter
NM_001330579.2:c.1372G>T VV NP_001317508.1:p.Glu458Ter
ENST00000242839.8:c.1372G>T ENSP00000242839.4:p.Glu458Ter
ENST00000344297.8:c.1372G>T ENSP00000342559.5:p.Glu458Ter
ENST00000400366.5:c.1039G>T ENSP00000383217.3:p.Glu347Ter
ENST00000400370.8:c.1285+3272G>T ENSP00000383221.3:p.=
ENST00000418097.7:c.1372G>T ENSP00000393343.2:p.Glu458Ter
ENST00000448424.6:c.1372G>T ENSP00000416738.2:p.Glu458Ter
ENST00000482841.6:n.1493G>T
ENST00000483772.1:n.128G>T
ENST00000634308.1:c.1372G>T ENSP00000489234.1:p.Glu458Ter
ENST00000634844.1:c.1372G>T ENSP00000489398.1:p.Glu458Ter
ENST00000635406.1:n.212-24185G>T