LDH info

Canonical Allele Identifier: CA011311
Gene: MYH7 HGNC NCBI

Identifiers and link-outs to other resources

ClinVar Variation Id: 14091
dbSNP Id: rs121913627
COSMIC: COSM954772

User contributed link-outs

Genomic Alleles

HGVS Genome Assembly
NC_000014.9:g.23427657C>T , CM000676.2:g.23427657C>T GRCh38
NC_000014.8:g.23896866C>T , CM000676.1:g.23896866C>T GRCh37
NC_000014.7:g.22966706C>T NCBI36
NG_007884.1:g.13005G>A , LRG_384:g.13005G>A

Transcript Alleles

HGVS Amino-acid change
NM_000257.3:c.1816G>A VV NP_000248.2:p.Val606Met
XR_245686.3:n.1922G>A
XM_017021340.1:c.1816G>A XP_016876829.1:p.Val606Met
NM_000257.4:c.1816G>A VV MANE Preferred NP_000248.2:p.Val606Met
ENST00000355349.3:c.1816G>A ENSP00000347507.3:p.Val606Met