LDH info

Canonical Allele Identifier: CA10576218
Gene: ACADM HGNC NCBI

Identifiers and link-outs to other resources

ClinVar Variation Id: 226104
ClinVar RCV Id: RCV000211527
dbSNP Id: rs875989875

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.75728477_75728483dup , CM000663.2:g.75728477_75728483dup GRCh38
NC_000001.10:g.76194162_76194168dup , CM000663.1:g.76194162_76194168dup GRCh37
NC_000001.9:g.75966750_75966756dup NCBI36
NG_007045.2:g.9120_9126dup

Transcript Alleles

HGVS Amino-acid change
NM_000016.5:c.107_113dup VV NP_000007.1:p.Ser38ArgfsTer3
NM_001127328.2:c.119_125dup VV NP_001120800.1:p.Ser42ArgfsTer3
NM_001286042.1:c.10+3660_10+3666dup VV NP_001272971.1:p.=
NM_001286043.1:c.107_113dup VV NP_001272972.1:p.Ser38ArgfsTer3
NM_001286044.1:c.-268+3660_-268+3666dup VV NP_001272973.1:p.=
ENST00000370834.9:c.107_113dup ENSP00000359871.5:p.Ser38ArgfsTer3
ENST00000370841.8:c.107_113dup ENSP00000359878.4:p.Ser38ArgfsTer3
ENST00000420607.6:c.119_125dup ENSP00000409612.2:p.Ser42ArgfsTer3
ENST00000473018.2:n.140_146dup
ENST00000525808.5:c.30+3660_30+3666dup ENSP00000434823.1:p.=
ENST00000525881.5:n.127+3660_127+3666dup
ENST00000526129.5:c.107_113dup ENSP00000434092.1:p.Ser38ArgfsTer3
ENST00000526196.5:c.30+3660_30+3666dup ENSP00000431953.1:p.=
ENST00000530953.6:c.107_113dup ENSP00000431372.1:p.Ser38ArgfsTer3
ENST00000532509.5:c.107_113dup ENSP00000432522.1:p.Ser38ArgfsTer3
ENST00000534146.5:n.186_192dup
ENST00000534334.5:c.107_113dup ENSP00000435584.1:p.Ser38ArgfsTer3
ENST00000541113.5:c.10+3660_10+3666dup ENSP00000442324.1:p.=