LDH info

Canonical Allele Identifier: CA347341
Gene: MCOLN1 HGNC NCBI

Identifiers and link-outs to other resources

ClinVar Variation Id: 208025
ClinVar RCV Id: RCV000192304

User contributed link-outs

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.7533562del , CM000681.2:g.7533562del GRCh38
NC_000019.9:g.7598448del , CM000681.1:g.7598448del GRCh37
NC_000019.8:g.7504448del NCBI36
NG_013374.1:g.4411del
NG_015806.1:g.15953del

Transcript Alleles

HGVS Amino-acid change
NM_020533.2:c.1615del VV NP_065394.1:p.Ala539ProfsTer?
NM_020533.3:c.1615del VV MANE Preferred NP_065394.1:p.Ala539ProfsTer?
ENST00000264079.10:c.1615del ENSP00000264079.5:p.Ala539ProfsTer?
ENST00000394321.9:n.1930del
ENST00000599334.1:n.343del
ENST00000602227.1:n.169del