LDH info

Canonical Allele Identifier: CA224813
Gene: OTC HGNC NCBI

Identifiers and link-outs to other resources

ClinVar Variation Id: 97342
ClinVar RCV Id: RCV000083590
dbSNP Id: rs66512766

User contributed link-outs

Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.38409026G>A , CM000685.2:g.38409026G>A GRCh38
NC_000023.10:g.38268279G>A , CM000685.1:g.38268279G>A GRCh37
NC_000023.9:g.38153223G>A NCBI36
NG_008471.1:g.61544G>A

Transcript Alleles

HGVS Amino-acid change
NM_000531.5:c.867+1G>A VV NP_000522.3:p.=
XM_017029556.1:c.867+1G>A XP_016885045.1:p.=
NM_000531.6:c.867+1G>A VV MANE Preferred NP_000522.3:p.=
ENST00000039007.4:c.867+1G>A ENSP00000039007.4:p.=
ENST00000465127.1:c.172-257095G>A ENSP00000417050.1:p.=