LDH info

Canonical Allele Identifier: CA913006
Gene: ACADM HGNC NCBI

Identifiers and link-outs to other resources

ClinVar Variation Id: 226097
dbSNP Id: rs762114560
COSMIC: COSM912145

User contributed link-outs

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.75732886C>T , CM000663.2:g.75732886C>T GRCh38
NC_000001.10:g.76198571C>T , CM000663.1:g.76198571C>T GRCh37
NC_000001.9:g.75971159C>T NCBI36
NG_007045.2:g.13529C>T

Transcript Alleles

HGVS Amino-acid change
NM_000016.5:c.250C>T VV NP_000007.1:p.Leu84Phe
NM_001127328.2:c.262C>T VV NP_001120800.1:p.Leu88Phe
NM_001286042.1:c.142C>T VV NP_001272971.1:p.Leu48Phe
NM_001286043.1:c.250C>T VV NP_001272972.1:p.Leu84Phe
NM_001286044.1:c.-136C>T VV NP_001272973.1:p.=
ENST00000370834.9:c.250C>T ENSP00000359871.5:p.Leu84Phe
ENST00000370841.8:c.250C>T ENSP00000359878.4:p.Leu84Phe
ENST00000420607.6:c.262C>T ENSP00000409612.2:p.Leu88Phe
ENST00000473018.2:n.283C>T
ENST00000525808.5:c.*18C>T ENSP00000434823.1:p.=
ENST00000525881.5:n.259C>T
ENST00000526129.5:c.*34C>T ENSP00000434092.1:p.=
ENST00000526196.5:c.*18C>T ENSP00000431953.1:p.=
ENST00000529059.5:n.260C>T
ENST00000530953.6:c.118+4398C>T ENSP00000431372.1:p.=
ENST00000532509.5:c.*14C>T ENSP00000432522.1:p.=
ENST00000534146.5:n.329C>T
ENST00000534334.5:c.250C>T ENSP00000435584.1:p.Leu84Phe
ENST00000541113.5:c.142C>T ENSP00000442324.1:p.Leu48Phe