LDH info

Canonical Allele Identifier: CA259106
Gene: COL4A5 HGNC NCBI

Identifiers and link-outs to other resources

ClinVar Variation Id: 24767
ClinVar RCV Id: RCV000021646
dbSNP Id: rs104886290

User contributed link-outs

Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.108694875G>T , CM000685.2:g.108694875G>T GRCh38
NC_000023.10:g.107938105G>T , CM000685.1:g.107938105G>T GRCh37
NC_000023.9:g.107824761G>T NCBI36
NG_011977.1:g.259952G>T
NG_011977.2:g.259952G>T

Transcript Alleles

HGVS Amino-acid change
NM_000495.4:c.4757G>T VV NP_000486.1:p.Cys1586Phe
NM_033380.2:c.4775G>T VV NP_203699.1:p.Cys1592Phe
XM_005262070.2:c.4766G>T XP_005262127.1:p.Cys1589Phe
XM_006724616.2:c.4775G>T XP_006724679.1:p.Cys1592Phe
XM_011530849.1:c.4451G>T XP_011529151.1:p.Cys1484Phe
XM_011530851.1:c.2348G>T XP_011529153.1:p.Cys783Phe
XM_011530849.2:c.4790G>T XP_011529151.2:p.Cys1597Phe
XM_017029259.2:c.4781G>T XP_016884748.1:p.Cys1594Phe
XM_017029260.1:c.4772G>T XP_016884749.1:p.Cys1591Phe
XM_017029263.2:c.3110G>T XP_016884752.1:p.Cys1037Phe
ENST00000328300.10:c.4775G>T ENSP00000331902.6:p.Cys1592Phe
ENST00000361603.6:c.4757G>T ENSP00000354505.2:p.Cys1586Phe
ENST00000504541.1:n.173G>T ENSP00000424845.1:p.Cys58Phe
ENST00000515658.1:n.325-1422G>T