LDH info

Canonical Allele Identifier: CA14644160
Gene: APOE HGNC NCBI

Identifiers and link-outs to other resources

ClinVar Variation Id: 619952
ClinVar RCV Id: RCV000845579
dbSNP Id: rs769450

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.44907187G>A , CM000681.2:g.44907187G>A GRCh38
NC_000019.9:g.45410444G>A , CM000681.1:g.45410444G>A GRCh37
NC_000019.8:g.50102284G>A NCBI36
NG_007084.2:g.6406G>A

Transcript Alleles

HGVS Amino-acid change
NM_000041.3:c.43+520G>A VV NP_000032.1:p.=
NM_001302688.1:c.121+520G>A VV NP_001289617.1:p.=
NM_001302689.1:c.43+520G>A VV NP_001289618.1:p.=
NM_001302690.1:c.43+520G>A VV NP_001289619.1:p.=
NM_001302691.1:c.43+520G>A VV NP_001289620.1:p.=
NM_000041.4:c.43+520G>A VV MANE Preferred NP_000032.1:p.=
NM_001302688.2:c.121+520G>A VV NP_001289617.1:p.=
NM_001302689.2:c.43+520G>A VV NP_001289618.1:p.=
NM_001302691.2:c.43+520G>A VV NP_001289620.1:p.=
ENST00000252486.8:c.43+520G>A ENSP00000252486.3:p.=
ENST00000425718.1:c.43+520G>A ENSP00000410423.1:p.=
ENST00000434152.5:c.121+520G>A ENSP00000413653.2:p.=
ENST00000446996.5:c.43+520G>A ENSP00000413135.1:p.=
ENST00000485628.2:n.632G>A