LDH info

Canonical Allele Identifier: CA275410
Gene: ACADM HGNC NCBI

Identifiers and link-outs to other resources

ClinVar Variation Id: 92267
dbSNP Id: rs373715782

User contributed link-outs

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.75745822C>T , CM000663.2:g.75745822C>T GRCh38
NC_000001.10:g.76211507C>T , CM000663.1:g.76211507C>T GRCh37
NC_000001.9:g.75984095C>T NCBI36
NG_007045.2:g.26465C>T

Transcript Alleles

HGVS Amino-acid change
NM_000016.5:c.616C>T VV NP_000007.1:p.Arg206Cys
NM_001127328.2:c.628C>T VV NP_001120800.1:p.Arg210Cys
NM_001286042.1:c.508C>T VV NP_001272971.1:p.Arg170Cys
NM_001286043.1:c.715C>T VV NP_001272972.1:p.Arg239Cys
NM_001286044.1:c.49C>T VV NP_001272973.1:p.Arg17Cys
NM_000016.6:c.616C>T VV MANE Preferred NP_000007.1:p.Arg206Cys
ENST00000370834.9:c.715C>T ENSP00000359871.5:p.Arg239Cys
ENST00000370841.8:c.616C>T ENSP00000359878.4:p.Arg206Cys
ENST00000420607.6:c.628C>T ENSP00000409612.2:p.Arg210Cys
ENST00000525808.5:c.*202C>T ENSP00000434823.1:p.=
ENST00000526129.5:c.*400C>T ENSP00000434092.1:p.=
ENST00000526196.5:c.*384C>T ENSP00000431953.1:p.=
ENST00000526930.1:n.389C>T
ENST00000529059.5:n.525C>T
ENST00000530953.6:c.*113C>T ENSP00000431372.1:p.=
ENST00000532207.5:n.346C>T
ENST00000532509.5:c.*380C>T ENSP00000432522.1:p.=
ENST00000534334.5:c.*200C>T ENSP00000435584.1:p.=
ENST00000541113.5:c.508C>T ENSP00000442324.1:p.Arg170Cys