LDH info

Canonical Allele Identifier: CA225002
Gene: PSEN1 HGNC NCBI

Identifiers and link-outs to other resources

ClinVar Variation Id: 98015
dbSNP Id: rs63750450

Genomic Alleles

HGVS Genome Assembly
NC_000014.9:g.73173571A>G , CM000676.2:g.73173571A>G GRCh38
NC_000014.8:g.73640279A>G , CM000676.1:g.73640279A>G GRCh37
NC_000014.7:g.72710032A>G NCBI36
NG_007386.2:g.42101A>G

Transcript Alleles

HGVS Amino-acid change
NM_000021.3:c.344A>G VV NP_000012.1:p.Tyr115Cys
NM_007318.2:c.332A>G VV NP_015557.2:p.Tyr111Cys
XM_005267864.1:c.344A>G XP_005267921.1:p.Tyr115Cys
XM_005267866.1:c.332A>G XP_005267923.1:p.Tyr111Cys
XM_011536971.1:c.344A>G XP_011535273.1:p.Tyr115Cys
XM_011536972.1:c.344A>G XP_011535274.1:p.Tyr115Cys
XM_011536973.1:c.332A>G XP_011535275.1:p.Tyr111Cys
XM_011536974.1:c.332A>G XP_011535276.1:p.Tyr111Cys
XM_005267864.3:c.344A>G XP_005267921.1:p.Tyr115Cys
XM_005267866.2:c.332A>G XP_005267923.1:p.Tyr111Cys
XM_011536972.2:c.344A>G XP_011535274.1:p.Tyr115Cys
XM_011536973.2:c.332A>G XP_011535275.1:p.Tyr111Cys
XM_011536974.2:c.332A>G XP_011535276.1:p.Tyr111Cys
NM_000021.4:c.344A>G VV MANE Preferred NP_000012.1:p.Tyr115Cys
NM_007318.3:c.332A>G VV NP_015557.2:p.Tyr111Cys
ENST00000324501.9:c.344A>G ENSP00000326366.5:p.Tyr115Cys
ENST00000357710.8:c.332A>G ENSP00000350342.4:p.Tyr111Cys
ENST00000394157.7:c.344A>G ENSP00000377712.3:p.Tyr115Cys
ENST00000394164.5:c.332A>G ENSP00000377719.1:p.Tyr111Cys
ENST00000406768.1:c.68A>G ENSP00000385948.1:p.Tyr23Cys
ENST00000553719.5:c.332A>G ENSP00000451674.1:p.Tyr111Cys
ENST00000553855.5:n.344A>G ENSP00000452242.1:p.Tyr115Cys
ENST00000555254.5:c.344A>G ENSP00000450652.1:p.Tyr115Cys
ENST00000555386.5:n.332A>G ENSP00000450845.1:p.Tyr111Cys
ENST00000557356.5:c.332A>G ENSP00000451498.1:p.Tyr111Cys
ENST00000557511.5:n.344A>G ENSP00000451429.1:p.Tyr115Cys
ENST00000559361.5:c.*288A>G ENSP00000454156.1:p.=