LDH info

Canonical Allele Identifier: CA10608781
Gene: MYOC HGNC NCBI

Identifiers and link-outs to other resources

ClinVar Variation Id: 293722
dbSNP Id: rs886045568

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.171652388T>C , CM000663.2:g.171652388T>C GRCh38
NC_000001.10:g.171621528T>C , CM000663.1:g.171621528T>C GRCh37
NC_000001.9:g.169888151T>C NCBI36
NG_008859.1:g.5246A>G

Transcript Alleles

HGVS Amino-acid change
NM_000261.1:c.224A>G VV NP_000252.1:p.Gln75Arg
NM_000261.2:c.224A>G VV MANE Preferred NP_000252.1:p.Gln75Arg
ENST00000037502.10:c.224A>G ENSP00000037502.5:p.Gln75Arg
ENST00000614688.1:c.224A>G ENSP00000478680.1:p.Gln75Arg