LDH info

Canonical Allele Identifier: CA223197
Gene: MMACHC HGNC NCBI

Identifiers and link-outs to other resources

ClinVar Variation Id: 95707
dbSNP Id: rs398124296

User contributed link-outs

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.45509024_45509026del , CM000663.2:g.45509024_45509026del GRCh38
NC_000001.10:g.45974696_45974698del , CM000663.1:g.45974696_45974698del GRCh37
NC_000001.9:g.45747283_45747285del NCBI36
NG_013378.1:g.13841_13843del

Transcript Alleles

HGVS Amino-acid change
NM_015506.2:c.658_660del VV NP_056321.2:p.Lys220del
XM_005270724.3:c.463_465del XP_005270781.1:p.Lys155del
XM_011541204.1:c.487_489del XP_011539506.1:p.Lys163del
NM_001330540.1:c.487_489del VV NP_001317469.1:p.Lys163del
XM_005270724.5:c.463_465del XP_005270781.1:p.Lys155del
NM_015506.3:c.658_660del VV MANE Preferred NP_056321.2:p.Lys220del
ENST00000401061.8:c.658_660del ENSP00000383840.4:p.Lys220del
ENST00000616135.1:c.487_489del ENSP00000478859.1:p.Lys163del