LDH info

Canonical Allele Identifier: CA013417
Gene: MYH7 HGNC NCBI

Identifiers and link-outs to other resources

ClinVar Variation Id: 155814
dbSNP Id: rs587782962

User contributed link-outs

Genomic Alleles

HGVS Genome Assembly
NC_000014.9:g.23422267C>T , CM000676.2:g.23422267C>T GRCh38
NC_000014.8:g.23891476C>T , CM000676.1:g.23891476C>T GRCh37
NC_000014.7:g.22961316C>T NCBI36
NG_007884.1:g.18395G>A , LRG_384:g.18395G>A

Transcript Alleles

HGVS Amino-acid change
NM_000257.3:c.3158G>A VV NP_000248.2:p.Arg1053Gln
XR_245686.3:n.3264G>A
XM_017021340.1:c.3158G>A XP_016876829.1:p.Arg1053Gln
NM_000257.4:c.3158G>A VV MANE Preferred NP_000248.2:p.Arg1053Gln
ENST00000355349.3:c.3158G>A ENSP00000347507.3:p.Arg1053Gln