LDH info

Canonical Allele Identifier: CA16040780
Gene: ACADM HGNC NCBI

Identifiers and link-outs to other resources

ClinVar Variation Id: 370633
ClinVar RCV Id: RCV000410883

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.75749418G>A , CM000663.2:g.75749418G>A GRCh38
NC_000001.10:g.76215103G>A , CM000663.1:g.76215103G>A GRCh37
NC_000001.9:g.75987691G>A NCBI36
NG_007045.2:g.30061G>A

Transcript Alleles

HGVS Amino-acid change
NM_000016.5:c.709-1G>A VV NP_000007.1:p.=
NM_001127328.2:c.721-1G>A VV NP_001120800.1:p.=
NM_001286042.1:c.601-1G>A VV NP_001272971.1:p.=
NM_001286043.1:c.808-1G>A VV NP_001272972.1:p.=
NM_001286044.1:c.142-1G>A VV NP_001272973.1:p.=
NM_000016.6:c.709-1G>A VV MANE Preferred NP_000007.1:p.=
ENST00000370834.9:c.808-1G>A ENSP00000359871.5:p.=
ENST00000370841.8:c.709-1G>A ENSP00000359878.4:p.=
ENST00000420607.6:c.721-1G>A ENSP00000409612.2:p.=
ENST00000525808.5:c.*295-1G>A ENSP00000434823.1:p.=
ENST00000526129.5:c.*493-1G>A ENSP00000434092.1:p.=
ENST00000526196.5:c.*477-1G>A ENSP00000431953.1:p.=
ENST00000526930.1:n.482-1G>A
ENST00000529059.5:n.618-1G>A
ENST00000530953.6:c.*206-1G>A ENSP00000431372.1:p.=
ENST00000532207.5:n.439-1G>A
ENST00000532509.5:c.*473-1G>A ENSP00000432522.1:p.=
ENST00000534334.5:c.*293-1G>A ENSP00000435584.1:p.=
ENST00000541113.5:c.601-1G>A ENSP00000442324.1:p.=