LDH info

Canonical Allele Identifier: CA220183
Gene: ACADM HGNC NCBI

Identifiers and link-outs to other resources

ClinVar Variation Id: 92268
dbSNP Id: rs200724875

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.75745823G>A , CM000663.2:g.75745823G>A GRCh38
NC_000001.10:g.76211508G>A , CM000663.1:g.76211508G>A GRCh37
NC_000001.9:g.75984096G>A NCBI36
NG_007045.2:g.26466G>A

Transcript Alleles

HGVS Amino-acid change
NM_000016.5:c.617G>A VV NP_000007.1:p.Arg206His
NM_001127328.2:c.629G>A VV NP_001120800.1:p.Arg210His
NM_001286042.1:c.509G>A VV NP_001272971.1:p.Arg170His
NM_001286043.1:c.716G>A VV NP_001272972.1:p.Arg239His
NM_001286044.1:c.50G>A VV NP_001272973.1:p.Arg17His
NM_000016.6:c.617G>A VV MANE Preferred NP_000007.1:p.Arg206His
ENST00000370834.9:c.716G>A ENSP00000359871.5:p.Arg239His
ENST00000370841.8:c.617G>A ENSP00000359878.4:p.Arg206His
ENST00000420607.6:c.629G>A ENSP00000409612.2:p.Arg210His
ENST00000525808.5:c.*203G>A ENSP00000434823.1:p.=
ENST00000526129.5:c.*401G>A ENSP00000434092.1:p.=
ENST00000526196.5:c.*385G>A ENSP00000431953.1:p.=
ENST00000526930.1:n.390G>A
ENST00000529059.5:n.526G>A
ENST00000530953.6:c.*114G>A ENSP00000431372.1:p.=
ENST00000532207.5:n.347G>A
ENST00000532509.5:c.*381G>A ENSP00000432522.1:p.=
ENST00000534334.5:c.*201G>A ENSP00000435584.1:p.=
ENST00000541113.5:c.509G>A ENSP00000442324.1:p.Arg170His