LDH info

Canonical Allele Identifier: CA114613
Gene: EMG1 HGNC NCBI

Identifiers and link-outs to other resources

ClinVar Variation Id: 890
ClinVar RCV Id: RCV000000938
dbSNP Id: rs74435397

User contributed link-outs

Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.6974427A>G , CM000674.2:g.6974427A>G GRCh38
NC_000012.11:g.7083589A>G , CM000674.1:g.7083589A>G GRCh37
NC_000012.10:g.6953850A>G NCBI36
NG_021408.1:g.8647A>G
NG_021408.2:g.8647A>G

Transcript Alleles

HGVS Amino-acid change
NM_006331.7:c.257A>G VV NP_006322.4:p.Asp86Gly
XM_011520907.1:c.257A>G XP_011519209.1:p.Asp86Gly
NM_001320049.1:c.257A>G VV NP_001306978.1:p.Asp86Gly
NR_135131.1:n.400A>G
NM_006331.8:c.257A>G VV MANE Preferred NP_006322.4:p.Asp86Gly
NM_001320049.2:c.257A>G VV NP_001306978.1:p.Asp86Gly
NR_135131.2:n.268A>G
ENST00000261406.7:n.239A>G ENSP00000476966.2:p.Asp80Gly
ENST00000539196.2:n.120A>G
ENST00000599672.5:c.257A>G ENSP00000470560.1:p.Asp86Gly
ENST00000607161.5:n.260A>G ENSP00000480420.1:p.Asp87Gly
ENST00000611981.1:n.268A>G
ENST00000620255.1:n.246A>G