LDH info

Canonical Allele Identifier: CA220170
Gene: ACADM HGNC NCBI

Identifiers and link-outs to other resources

ClinVar Variation Id: 92257
dbSNP Id: rs147559466

User contributed link-outs

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.75732652G>A , CM000663.2:g.75732652G>A GRCh38
NC_000001.10:g.76198337G>A , CM000663.1:g.76198337G>A GRCh37
NC_000001.9:g.75970925G>A NCBI36
NG_007045.2:g.13295G>A

Transcript Alleles

HGVS Amino-acid change
NM_000016.5:c.127G>A VV NP_000007.1:p.Glu43Lys
NM_001127328.2:c.139G>A VV NP_001120800.1:p.Glu47Lys
NM_001286042.1:c.19G>A VV NP_001272971.1:p.Glu7Lys
NM_001286043.1:c.127G>A VV NP_001272972.1:p.Glu43Lys
NM_001286044.1:c.-259G>A VV NP_001272973.1:p.=
NM_000016.6:c.127G>A VV MANE Preferred NP_000007.1:p.Glu43Lys
ENST00000370834.9:c.127G>A ENSP00000359871.5:p.Glu43Lys
ENST00000370841.8:c.127G>A ENSP00000359878.4:p.Glu43Lys
ENST00000420607.6:c.139G>A ENSP00000409612.2:p.Glu47Lys
ENST00000473018.2:n.160G>A
ENST00000525808.5:c.39G>A ENSP00000434823.1:p.Pro13=
ENST00000525881.5:n.136G>A
ENST00000526129.5:c.127G>A ENSP00000434092.1:p.Glu43Lys
ENST00000526196.5:c.39G>A ENSP00000431953.1:p.Pro13=
ENST00000529059.5:n.137G>A
ENST00000530953.6:c.118+4164G>A ENSP00000431372.1:p.=
ENST00000532509.5:c.119-201G>A ENSP00000432522.1:p.=
ENST00000534146.5:n.206G>A
ENST00000534334.5:c.127G>A ENSP00000435584.1:p.Glu43Lys
ENST00000541113.5:c.19G>A ENSP00000442324.1:p.Glu7Lys