LDH info

Canonical Allele Identifier: CA10576239
Gene: ACADM HGNC NCBI

Identifiers and link-outs to other resources

ClinVar Variation Id: 226077
ClinVar RCV Id: RCV000211520
dbSNP Id: rs875989864

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.75750527dup , CM000663.2:g.75750527dup GRCh38
NC_000001.10:g.76216212dup , CM000663.1:g.76216212dup GRCh37
NC_000001.9:g.75988800dup NCBI36
NG_007045.2:g.31170dup

Transcript Alleles

HGVS Amino-acid change
NM_000016.5:c.926dup VV NP_000007.1:p.Gly310ArgfsTer16
NM_001127328.2:c.938dup VV NP_001120800.1:p.Gly314ArgfsTer16
NM_001286042.1:c.818dup VV NP_001272971.1:p.Gly274ArgfsTer16
NM_001286043.1:c.1025dup VV NP_001272972.1:p.Gly343ArgfsTer16
NM_001286044.1:c.359dup VV NP_001272973.1:p.Gly121ArgfsTer16
NM_000016.6:c.926dup VV MANE Preferred NP_000007.1:p.Gly310ArgfsTer16
ENST00000370834.9:c.1025dup ENSP00000359871.5:p.Gly343ArgfsTer16
ENST00000370841.8:c.926dup ENSP00000359878.4:p.Gly310ArgfsTer16
ENST00000420607.6:c.938dup ENSP00000409612.2:p.Gly314ArgfsTer16
ENST00000481374.1:n.77dup
ENST00000525808.5:c.*512dup ENSP00000434823.1:p.=
ENST00000526129.5:c.*710dup ENSP00000434092.1:p.=
ENST00000526196.5:c.*694dup ENSP00000431953.1:p.=
ENST00000528016.1:n.140dup ENSP00000434284.1:p.Gly48ArgfsTer?
ENST00000529059.5:n.835dup
ENST00000532207.5:n.656dup
ENST00000534334.5:c.*510dup ENSP00000435584.1:p.=
ENST00000541113.5:c.818dup ENSP00000442324.1:p.Gly274ArgfsTer16