LDH info

Canonical Allele Identifier: CA119179
Gene: MYOC HGNC NCBI

Identifiers and link-outs to other resources

ClinVar Variation Id: 7955
dbSNP Id: rs74315337

User contributed link-outs

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.171652476G>A , CM000663.2:g.171652476G>A GRCh38
NC_000001.10:g.171621616G>A , CM000663.1:g.171621616G>A GRCh37
NC_000001.9:g.169888239G>A NCBI36
NG_008859.1:g.5158C>T

Transcript Alleles

HGVS Amino-acid change
NM_000261.1:c.136C>T VV NP_000252.1:p.Arg46Ter
NM_000261.2:c.136C>T VV MANE Preferred NP_000252.1:p.Arg46Ter
ENST00000037502.10:c.136C>T ENSP00000037502.5:p.Arg46Ter
ENST00000614688.1:c.136C>T ENSP00000478680.1:p.Arg46Ter