LDH info

Canonical Allele Identifier: CA225033
Gene: PSEN1 HGNC NCBI

Identifiers and link-outs to other resources

ClinVar Variation Id: 18130
dbSNP Id: rs63749885

User contributed link-outs

Genomic Alleles

HGVS Genome Assembly
NC_000014.9:g.73186859C>T , CM000676.2:g.73186859C>T GRCh38
NC_000014.8:g.73653567C>T , CM000676.1:g.73653567C>T GRCh37
NC_000014.7:g.72723320C>T NCBI36
NG_007386.2:g.55389C>T

Transcript Alleles

HGVS Amino-acid change
NM_000021.3:c.487C>T VV NP_000012.1:p.His163Tyr
NM_007318.2:c.475C>T VV NP_015557.2:p.His159Tyr
XM_005267864.1:c.487C>T XP_005267921.1:p.His163Tyr
XM_005267866.1:c.475C>T XP_005267923.1:p.His159Tyr
XM_011536971.1:c.487C>T XP_011535273.1:p.His163Tyr
XM_011536972.1:c.487C>T XP_011535274.1:p.His163Tyr
XM_011536973.1:c.475C>T XP_011535275.1:p.His159Tyr
XM_011536974.1:c.475C>T XP_011535276.1:p.His159Tyr
XM_005267864.3:c.487C>T XP_005267921.1:p.His163Tyr
XM_005267866.2:c.475C>T XP_005267923.1:p.His159Tyr
XM_011536972.2:c.487C>T XP_011535274.1:p.His163Tyr
XM_011536973.2:c.475C>T XP_011535275.1:p.His159Tyr
XM_011536974.2:c.475C>T XP_011535276.1:p.His159Tyr
NM_000021.4:c.487C>T VV MANE Preferred NP_000012.1:p.His163Tyr
NM_007318.3:c.475C>T VV NP_015557.2:p.His159Tyr
ENST00000324501.9:c.487C>T ENSP00000326366.5:p.His163Tyr
ENST00000357710.8:c.475C>T ENSP00000350342.4:p.His159Tyr
ENST00000394164.5:c.475C>T ENSP00000377719.1:p.His159Tyr
ENST00000406768.1:c.211C>T ENSP00000385948.1:p.His71Tyr
ENST00000553855.5:n.487C>T ENSP00000452242.1:p.His163Tyr
ENST00000555386.5:n.475C>T ENSP00000450845.1:p.His159Tyr
ENST00000557511.5:n.487C>T ENSP00000451429.1:p.His163Tyr