LDH info

Canonical Allele Identifier: CA041808
Gene: APOE HGNC NCBI

Identifiers and link-outs to other resources

ClinVar Variation Id: 242765
ClinVar RCV Id: RCV000429606
dbSNP Id: rs769452

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.44907853T>C , CM000681.2:g.44907853T>C GRCh38
NC_000019.9:g.45411110T>C , CM000681.1:g.45411110T>C GRCh37
NC_000019.8:g.50102950T>C NCBI36
NG_007084.2:g.7072T>C

Transcript Alleles

HGVS Amino-acid change
NM_000041.3:c.137T>C VV NP_000032.1:p.Leu46Pro
NM_001302688.1:c.215T>C VV NP_001289617.1:p.Leu72Pro
NM_001302689.1:c.137T>C VV NP_001289618.1:p.Leu46Pro
NM_001302690.1:c.137T>C VV NP_001289619.1:p.Leu46Pro
NM_001302691.1:c.137T>C VV NP_001289620.1:p.Leu46Pro
NM_000041.4:c.137T>C VV MANE Preferred NP_000032.1:p.Leu46Pro
NM_001302688.2:c.215T>C VV NP_001289617.1:p.Leu72Pro
NM_001302689.2:c.137T>C VV NP_001289618.1:p.Leu46Pro
NM_001302691.2:c.137T>C VV NP_001289620.1:p.Leu46Pro
ENST00000252486.8:c.137T>C ENSP00000252486.3:p.Leu46Pro
ENST00000425718.1:c.137T>C ENSP00000410423.1:p.Leu46Pro
ENST00000434152.5:c.215T>C ENSP00000413653.2:p.Leu72Pro
ENST00000446996.5:c.137T>C ENSP00000413135.1:p.Leu46Pro