LDH info

Canonical Allele Identifier: CA127519
Gene: APOE HGNC NCBI

Identifiers and link-outs to other resources

ClinVar Variation Id: 17875
ClinVar RCV Id: RCV000019461
dbSNP Id: rs121918398

User contributed link-outs

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.44909171G>A , CM000681.2:g.44909171G>A GRCh38
NC_000019.9:g.45412428G>A , CM000681.1:g.45412428G>A GRCh37
NC_000019.8:g.50104268G>A NCBI36
NG_007084.2:g.8390G>A

Transcript Alleles

HGVS Amino-acid change
NM_000041.3:c.875G>A VV NP_000032.1:p.Arg292His
NM_001302688.1:c.953G>A VV NP_001289617.1:p.Arg318His
NM_001302689.1:c.875G>A VV NP_001289618.1:p.Arg292His
NM_001302690.1:c.875G>A VV NP_001289619.1:p.Arg292His
NM_001302691.1:c.875G>A VV NP_001289620.1:p.Arg292His
NM_000041.4:c.875G>A VV MANE Preferred NP_000032.1:p.Arg292His
NM_001302688.2:c.953G>A VV NP_001289617.1:p.Arg318His
NM_001302689.2:c.875G>A VV NP_001289618.1:p.Arg292His
NM_001302691.2:c.875G>A VV NP_001289620.1:p.Arg292His
ENST00000252486.8:c.875G>A ENSP00000252486.3:p.Arg292His