LDH info

Canonical Allele Identifier: CA1244322
Gene: MYOC HGNC NCBI

Identifiers and link-outs to other resources

dbSNP Id: rs74315337

Genomic Alleles

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

Transcript Alleles

HGVS Amino-acid change
NM_000261.1:c.136C>G VV NP_000252.1:p.Arg46Gly
NM_000261.2:c.136C>G VV MANE Preferred NP_000252.1:p.Arg46Gly
ENST00000037502.10:c.136C>G ENSP00000037502.5:p.Arg46Gly
ENST00000614688.1:c.136C>G ENSP00000478680.1:p.Arg46Gly