LDH info

Canonical Allele Identifier: CA10576237
Gene: ACADM HGNC NCBI

Identifiers and link-outs to other resources

ClinVar Variation Id: 226089
ClinVar RCV Id: RCV000211474
dbSNP Id: rs875989867

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.75749452A>G , CM000663.2:g.75749452A>G GRCh38
NC_000001.10:g.76215137A>G , CM000663.1:g.76215137A>G GRCh37
NC_000001.9:g.75987725A>G NCBI36
NG_007045.2:g.30095A>G

Transcript Alleles

HGVS Amino-acid change
NM_000016.5:c.742A>G VV NP_000007.1:p.Arg248Gly
NM_001127328.2:c.754A>G VV NP_001120800.1:p.Arg252Gly
NM_001286042.1:c.634A>G VV NP_001272971.1:p.Arg212Gly
NM_001286043.1:c.841A>G VV NP_001272972.1:p.Arg281Gly
NM_001286044.1:c.175A>G VV NP_001272973.1:p.Arg59Gly
ENST00000370834.9:c.841A>G ENSP00000359871.5:p.Arg281Gly
ENST00000370841.8:c.742A>G ENSP00000359878.4:p.Arg248Gly
ENST00000420607.6:c.754A>G ENSP00000409612.2:p.Arg252Gly
ENST00000525808.5:c.*328A>G ENSP00000434823.1:p.=
ENST00000526129.5:c.*526A>G ENSP00000434092.1:p.=
ENST00000526196.5:c.*510A>G ENSP00000431953.1:p.=
ENST00000526930.1:n.515A>G
ENST00000529059.5:n.651A>G
ENST00000530953.6:c.*239A>G ENSP00000431372.1:p.=
ENST00000532207.5:n.472A>G
ENST00000532509.5:c.*506A>G ENSP00000432522.1:p.=
ENST00000534334.5:c.*326A>G ENSP00000435584.1:p.=
ENST00000541113.5:c.634A>G ENSP00000442324.1:p.Arg212Gly