LDH info

Canonical Allele Identifier: CA2090414
Gene: BARD1 HGNC NCBI

Identifiers and link-outs to other resources

ClinVar Variation Id: 406761
ClinVar RCV Id: RCV000462626
dbSNP Id: rs776851287

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.214781348G>A , CM000664.2:g.214781348G>A GRCh38
NC_000002.11:g.215646072G>A , CM000664.1:g.215646072G>A GRCh37
NC_000002.10:g.215354317G>A NCBI36
NG_012047.2:g.33357C>T
NG_012047.3:g.33364C>T

Transcript Alleles

HGVS Amino-acid change
NM_000465.3:c.526C>T VV NP_000456.2:p.Gln176Ter
NM_001282543.1:c.469C>T VV NP_001269472.1:p.Gln157Ter
NM_001282545.1:c.215+15713C>T VV NP_001269474.1:p.=
NM_001282548.1:c.158+28064C>T VV NP_001269477.1:p.=
NM_001282549.1:c.364+10949C>T VV NP_001269478.1:p.=
NR_104212.1:n.519C>T
NR_104215.1:n.462C>T
NR_104216.1:n.506+10949C>T
XM_011511567.1:c.472C>T XP_011509869.1:p.Gln158Ter
XM_011511568.1:c.526C>T XP_011509870.1:p.Gln176Ter
XM_017004613.1:c.625C>T XP_016860102.1:p.Gln209Ter
XM_017004614.1:c.625C>T XP_016860103.1:p.Gln209Ter
XR_002959322.1:n.716C>T
NM_000465.4:c.526C>T VV MANE Preferred NP_000456.2:p.Gln176Ter
NM_001282543.2:c.469C>T VV NP_001269472.1:p.Gln157Ter
NM_001282545.2:c.215+15713C>T VV NP_001269474.1:p.=
NM_001282548.2:c.158+28064C>T VV NP_001269477.1:p.=
NM_001282549.2:c.364+10949C>T VV NP_001269478.1:p.=
NR_104212.2:n.491C>T
NR_104215.2:n.434C>T
NR_104216.2:n.478+10949C>T
ENST00000260947.8:c.526C>T ENSP00000260947.4:p.Gln176Ter
ENST00000421162.1:c.215+15713C>T ENSP00000392245.1:p.=
ENST00000455743.5:c.*146C>T ENSP00000412186.1:p.=
ENST00000471787.1:n.421C>T
ENST00000613192.1:c.73+28064C>T ENSP00000483275.1:p.=
ENST00000613374.4:c.158+28064C>T ENSP00000484464.1:p.=
ENST00000613706.4:c.215+15713C>T ENSP00000484976.1:p.=
ENST00000617164.4:c.469C>T ENSP00000480470.1:p.Gln157Ter
ENST00000619009.4:c.364+10949C>T ENSP00000482293.1:p.=
ENST00000620057.4:c.364+10949C>T ENSP00000481988.1:p.=