LDH info

Canonical Allele Identifier: CA16040786
Gene: ACADM HGNC NCBI

Identifiers and link-outs to other resources

ClinVar Variation Id: 370160
ClinVar RCV Id: RCV000410007
dbSNP Id: rs1057516278

User contributed link-outs

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.75761290dup , CM000663.2:g.75761290dup GRCh38
NC_000001.10:g.76226975dup , CM000663.1:g.76226975dup GRCh37
NC_000001.9:g.75999563dup NCBI36
NG_007045.2:g.41933dup

Transcript Alleles

HGVS Amino-acid change
NM_000016.5:c.1114dup VV NP_000007.1:p.Ala372GlyfsTer11
NM_001127328.2:c.1126dup VV NP_001120800.1:p.Ala376GlyfsTer11
NM_001286042.1:c.1006dup VV NP_001272971.1:p.Ala336GlyfsTer11
NM_001286043.1:c.1213dup VV NP_001272972.1:p.Ala405GlyfsTer11
NM_001286044.1:c.547dup VV NP_001272973.1:p.Ala183GlyfsTer11
NM_000016.6:c.1114dup VV NP_000007.1:p.Ala372GlyfsTer11
ENST00000370834.9:c.1213dup ENSP00000359871.5:p.Ala405GlyfsTer11
ENST00000370841.8:c.1114dup ENSP00000359878.4:p.Ala372GlyfsTer11
ENST00000420607.6:c.1126dup ENSP00000409612.2:p.Ala376GlyfsTer11
ENST00000481374.1:n.387dup
ENST00000525808.5:c.*700dup ENSP00000434823.1:p.=
ENST00000526129.5:c.*898dup ENSP00000434092.1:p.=
ENST00000526196.5:c.*882dup ENSP00000431953.1:p.=
ENST00000528016.1:n.160-7887dup ENSP00000434284.1:p.=
ENST00000529059.5:n.1023dup
ENST00000541113.5:c.1006dup ENSP00000442324.1:p.Ala336GlyfsTer11