LDH info

Canonical Allele Identifier: CA127525
Gene: APOE HGNC NCBI

Identifiers and link-outs to other resources

ClinVar Variation Id: 17880
ClinVar RCV Id: RCV000019468
dbSNP Id: rs121918399

User contributed link-outs

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.44907843C>T , CM000681.2:g.44907843C>T GRCh38
NC_000019.9:g.45411100C>T , CM000681.1:g.45411100C>T GRCh37
NC_000019.8:g.50102940C>T NCBI36
NG_007084.2:g.7062C>T

Transcript Alleles

HGVS Amino-acid change
NM_000041.3:c.127C>T VV NP_000032.1:p.Arg43Cys
NM_001302688.1:c.205C>T VV NP_001289617.1:p.Arg69Cys
NM_001302689.1:c.127C>T VV NP_001289618.1:p.Arg43Cys
NM_001302690.1:c.127C>T VV NP_001289619.1:p.Arg43Cys
NM_001302691.1:c.127C>T VV NP_001289620.1:p.Arg43Cys
NM_000041.4:c.127C>T VV MANE Preferred NP_000032.1:p.Arg43Cys
NM_001302688.2:c.205C>T VV NP_001289617.1:p.Arg69Cys
NM_001302689.2:c.127C>T VV NP_001289618.1:p.Arg43Cys
NM_001302691.2:c.127C>T VV NP_001289620.1:p.Arg43Cys
ENST00000252486.8:c.127C>T ENSP00000252486.3:p.Arg43Cys
ENST00000425718.1:c.127C>T ENSP00000410423.1:p.Arg43Cys
ENST00000434152.5:c.205C>T ENSP00000413653.2:p.Arg69Cys
ENST00000446996.5:c.127C>T ENSP00000413135.1:p.Arg43Cys