LDH info

Canonical Allele Identifier: CA223191
Gene: MMACHC HGNC NCBI

Identifiers and link-outs to other resources

ClinVar Variation Id: 1425
dbSNP Id: rs121918243

User contributed link-outs

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.45508848G>A , CM000663.2:g.45508848G>A GRCh38
NC_000001.10:g.45974520G>A , CM000663.1:g.45974520G>A GRCh37
NC_000001.9:g.45747107G>A NCBI36
NG_013378.1:g.13665G>A

Transcript Alleles

HGVS Amino-acid change
NM_015506.2:c.482G>A VV NP_056321.2:p.Arg161Gln
XM_005270724.3:c.287G>A XP_005270781.1:p.Arg96Gln
XM_011541204.1:c.311G>A XP_011539506.1:p.Arg104Gln
NM_001330540.1:c.311G>A VV NP_001317469.1:p.Arg104Gln
XM_005270724.5:c.287G>A XP_005270781.1:p.Arg96Gln
NM_015506.3:c.482G>A VV MANE Preferred NP_056321.2:p.Arg161Gln
NM_001330540.2:c.311G>A VV NP_001317469.1:p.Arg104Gln
ENST00000401061.8:c.482G>A ENSP00000383840.4:p.Arg161Gln
ENST00000616135.1:c.311G>A ENSP00000478859.1:p.Arg104Gln