LDH info

Canonical Allele Identifier: CA016781
Gene: MYH7 HGNC NCBI

Identifiers and link-outs to other resources

ClinVar Variation Id: 14088
dbSNP Id: rs3218713
COSMIC: COSM954783

User contributed link-outs

Genomic Alleles

HGVS Genome Assembly
NC_000014.9:g.23431468C>T , CM000676.2:g.23431468C>T GRCh38
NC_000014.8:g.23900677C>T , CM000676.1:g.23900677C>T GRCh37
NC_000014.7:g.22970517C>T NCBI36
NG_007884.1:g.9194G>A , LRG_384:g.9194G>A

Transcript Alleles

HGVS Amino-acid change
NM_000257.3:c.746G>A VV NP_000248.2:p.Arg249Gln
XR_245686.3:n.852G>A
XM_017021340.1:c.746G>A XP_016876829.1:p.Arg249Gln
NM_000257.4:c.746G>A VV MANE Preferred NP_000248.2:p.Arg249Gln
ENST00000355349.3:c.746G>A ENSP00000347507.3:p.Arg249Gln