LDH info

Canonical Allele Identifier: CA119178
Gene: MYOC HGNC NCBI

Identifiers and link-outs to other resources

ClinVar Variation Id: 7954
ClinVar RCV Id: RCV000008417
dbSNP Id: rs74315336

User contributed link-outs

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.171636173T>C , CM000663.2:g.171636173T>C GRCh38
NC_000001.10:g.171605313T>C , CM000663.1:g.171605313T>C GRCh37
NC_000001.9:g.169871936T>C NCBI36
NG_008859.1:g.21461A>G

Transcript Alleles

HGVS Amino-acid change
NM_000261.1:c.1267A>G VV NP_000252.1:p.Lys423Glu
NM_000261.2:c.1267A>G VV MANE Preferred NP_000252.1:p.Lys423Glu
ENST00000037502.10:c.1267A>G ENSP00000037502.5:p.Lys423Glu
ENST00000614688.1:c.*231A>G ENSP00000478680.1:p.=