LDH info

Canonical Allele Identifier: CA220175
Gene: ACADM HGNC NCBI

Identifiers and link-outs to other resources

ClinVar Variation Id: 92260
ClinVar RCV Id: RCV000176960
dbSNP Id: rs398123073

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.75732743T>G , CM000663.2:g.75732743T>G GRCh38
NC_000001.10:g.76198428T>G , CM000663.1:g.76198428T>G GRCh37
NC_000001.9:g.75971016T>G NCBI36
NG_007045.2:g.13386T>G

Transcript Alleles

HGVS Amino-acid change
NM_000016.5:c.216+2T>G VV NP_000007.1:p.=
NM_001127328.2:c.228+2T>G VV NP_001120800.1:p.=
NM_001286042.1:c.108+2T>G VV NP_001272971.1:p.=
NM_001286043.1:c.216+2T>G VV NP_001272972.1:p.=
NM_001286044.1:c.-170+2T>G VV NP_001272973.1:p.=
ENST00000370834.9:c.216+2T>G ENSP00000359871.5:p.=
ENST00000370841.8:c.216+2T>G ENSP00000359878.4:p.=
ENST00000420607.6:c.228+2T>G ENSP00000409612.2:p.=
ENST00000473018.2:n.249+2T>G
ENST00000525808.5:c.128+2T>G ENSP00000434823.1:p.=
ENST00000525881.5:n.225+2T>G
ENST00000526129.5:c.216+2T>G ENSP00000434092.1:p.=
ENST00000526196.5:c.128+2T>G ENSP00000431953.1:p.=
ENST00000529059.5:n.226+2T>G
ENST00000530953.6:c.118+4255T>G ENSP00000431372.1:p.=
ENST00000532509.5:c.119-110T>G ENSP00000432522.1:p.=
ENST00000534146.5:n.295+2T>G
ENST00000534334.5:c.216+2T>G ENSP00000435584.1:p.=
ENST00000541113.5:c.108+2T>G ENSP00000442324.1:p.=