LDH info

Canonical Allele Identifier: CA224814
Gene: OTC HGNC NCBI

Identifiers and link-outs to other resources

ClinVar Variation Id: 97343
ClinVar RCV Id: RCV000083591
dbSNP Id: rs66512766

User contributed link-outs

Genomic Alleles

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

Transcript Alleles

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