LDH info

Canonical Allele Identifier: CA340347
Gene: MCOLN1 HGNC NCBI

Identifiers and link-outs to other resources

ClinVar Variation Id: 5137
ClinVar RCV Id: RCV000005444
dbSNP Id: rs121908374

User contributed link-outs

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.7529173C>T , CM000681.2:g.7529173C>T GRCh38
NC_000019.9:g.7594059C>T , CM000681.1:g.7594059C>T GRCh37
NC_000019.8:g.7500059C>T NCBI36
NG_013374.1:g.22C>T
NG_015806.1:g.11564C>T

Transcript Alleles

HGVS Amino-acid change
NM_020533.2:c.1207C>T VV NP_065394.1:p.Arg403Cys
NM_020533.3:c.1207C>T VV MANE Preferred NP_065394.1:p.Arg403Cys
ENST00000264079.10:c.1207C>T ENSP00000264079.5:p.Arg403Cys
ENST00000394321.9:n.1522C>T
ENST00000594692.1:n.203C>T
ENST00000595860.5:n.390C>T
ENST00000599334.1:n.84C>T