LDH info

Canonical Allele Identifier: CA126674
Gene: CFD HGNC NCBI

Identifiers and link-outs to other resources

ClinVar Variation Id: 16564
ClinVar RCV Id: RCV000018032
dbSNP Id: rs104894667

User contributed link-outs

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.860686C>A , CM000681.2:g.860686C>A GRCh38
NC_000019.9:g.860686C>A , CM000681.1:g.860686C>A GRCh37
NC_000019.8:g.811686C>A NCBI36
NG_007274.1:g.6022C>A , LRG_46:g.6022C>A

Transcript Alleles

HGVS Amino-acid change
NM_001928.2:c.125C>A , LRG_46t1:c.125C>A NP_001919.2:p.Ser42Ter
NM_001317335.1:c.146C>A VV NP_001304264.1:p.Ser49Ter
NM_001928.3:c.125C>A VV NP_001919.2:p.Ser42Ter
NM_001317335.2:c.146C>A VV NP_001304264.1:p.Ser49Ter
NM_001928.4:c.125C>A VV MANE Preferred NP_001919.2:p.Ser42Ter
ENST00000327726.10:c.125C>A ENSP00000332139.4:p.Ser42Ter
ENST00000592860.2:c.146C>A ENSP00000468253.1:p.Ser49Ter