LDH info

Canonical Allele Identifier: CA16042030
Gene: MLC1 HGNC NCBI

Identifiers and link-outs to other resources

ClinVar Variation Id: 370785
ClinVar RCV Id: RCV000410132
dbSNP Id: rs1057516766

User contributed link-outs

Genomic Alleles

HGVS Genome Assembly
NC_000022.11:g.50084767del , CM000684.2:g.50084767del GRCh38
NC_000022.10:g.50523196del , CM000684.1:g.50523196del GRCh37
NC_000022.9:g.48865323del NCBI36
NG_009162.1:g.6163del

Transcript Alleles

HGVS Amino-acid change
NM_015166.3:c.136del VV NP_055981.1:p.Cys46AlafsTer12
NM_139202.2:c.136del VV NP_631941.1:p.Cys46AlafsTer12
XM_011530678.1:c.136del XP_011528980.1:p.Cys46AlafsTer12
XR_430476.2:n.531del
XM_011530678.2:c.136del XP_011528980.1:p.Cys46AlafsTer12
XM_017028671.1:c.136del XP_016884160.1:p.Cys46AlafsTer12
XR_001755180.2:n.641del
XR_001755181.2:n.409del
ENST00000311597.9:c.136del ENSP00000310375.5:p.Cys46AlafsTer12
ENST00000395876.6:c.136del ENSP00000379216.2:p.Cys46AlafsTer12
ENST00000442311.1:c.136del ENSP00000401385.1:p.Cys46AlafsTer12