LDH info

Canonical Allele Identifier: CA119182
Gene: MYOC HGNC NCBI

Identifiers and link-outs to other resources

ClinVar Variation Id: 7957
ClinVar RCV Id: RCV000008420
dbSNP Id: rs28936694

User contributed link-outs

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.171636244C>A , CM000663.2:g.171636244C>A GRCh38
NC_000001.10:g.171605384C>A , CM000663.1:g.171605384C>A GRCh37
NC_000001.9:g.169872007C>A NCBI36
NG_008859.1:g.21390G>T

Transcript Alleles

HGVS Amino-acid change
NM_000261.1:c.1196G>T VV NP_000252.1:p.Gly399Val
NM_000261.2:c.1196G>T VV MANE Preferred NP_000252.1:p.Gly399Val
ENST00000037502.10:c.1196G>T ENSP00000037502.5:p.Gly399Val
ENST00000614688.1:c.*160G>T ENSP00000478680.1:p.=