LDH info

Canonical Allele Identifier: CA274925
Gene: ACADM HGNC NCBI

Identifiers and link-outs to other resources

ClinVar Variation Id: 193539
dbSNP Id: rs747268471

User contributed link-outs

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.75750529G>A , CM000663.2:g.75750529G>A GRCh38
NC_000001.10:g.76216214G>A , CM000663.1:g.76216214G>A GRCh37
NC_000001.9:g.75988802G>A NCBI36
NG_007045.2:g.31172G>A

Transcript Alleles

HGVS Amino-acid change
NM_000016.5:c.928G>A VV NP_000007.1:p.Gly310Arg
NM_001127328.2:c.940G>A VV NP_001120800.1:p.Gly314Arg
NM_001286042.1:c.820G>A VV NP_001272971.1:p.Gly274Arg
NM_001286043.1:c.1027G>A VV NP_001272972.1:p.Gly343Arg
NM_001286044.1:c.361G>A VV NP_001272973.1:p.Gly121Arg
ENST00000370834.9:c.1027G>A ENSP00000359871.5:p.Gly343Arg
ENST00000370841.8:c.928G>A ENSP00000359878.4:p.Gly310Arg
ENST00000420607.6:c.940G>A ENSP00000409612.2:p.Gly314Arg
ENST00000481374.1:n.79G>A
ENST00000525808.5:c.*514G>A ENSP00000434823.1:p.=
ENST00000526129.5:c.*712G>A ENSP00000434092.1:p.=
ENST00000526196.5:c.*696G>A ENSP00000431953.1:p.=
ENST00000528016.1:n.142G>A ENSP00000434284.1:p.Gly48Arg
ENST00000529059.5:n.837G>A
ENST00000532207.5:n.658G>A
ENST00000534334.5:c.*512G>A ENSP00000435584.1:p.=
ENST00000541113.5:c.820G>A ENSP00000442324.1:p.Gly274Arg