LDH info

Canonical Allele Identifier: CA340345
Gene: MCOLN1 HGNC NCBI

Identifiers and link-outs to other resources

ClinVar Variation Id: 5136
dbSNP Id: rs121908373

User contributed link-outs

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.7526505C>T , CM000681.2:g.7526505C>T GRCh38
NC_000019.9:g.7591391C>T , CM000681.1:g.7591391C>T GRCh37
NC_000019.8:g.7497391C>T NCBI36
NG_015806.1:g.8896C>T

Transcript Alleles

HGVS Amino-acid change
NM_020533.2:c.304C>T VV NP_065394.1:p.Arg102Ter
NM_020533.3:c.304C>T VV MANE Preferred NP_065394.1:p.Arg102Ter
ENST00000264079.10:c.304C>T ENSP00000264079.5:p.Arg102Ter
ENST00000394321.9:n.384C>T
ENST00000596008.1:n.266C>T
ENST00000598406.1:n.125C>T
ENST00000601003.1:c.304C>T ENSP00000469074.1:p.Arg102Ter