LDH info

Canonical Allele Identifier: CA16041986
Gene: MCOLN1 HGNC NCBI

Identifiers and link-outs to other resources

ClinVar Variation Id: 370118
ClinVar RCV Id: RCV000410923

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.7522782G>A , CM000681.2:g.7522782G>A GRCh38
NC_000019.9:g.7587668G>A , CM000681.1:g.7587668G>A GRCh37
NC_000019.8:g.7493668G>A NCBI36
NG_015806.1:g.5173G>A

Transcript Alleles

HGVS Amino-acid change
NM_020533.2:c.31+1G>A VV NP_065394.1:p.=
XR_936293.1:n.926+60C>T
XR_936294.1:n.926+60C>T
XR_936295.1:n.570+60C>T
XR_936293.2:n.952+60C>T
XR_936294.2:n.952+60C>T
NM_020533.3:c.31+1G>A VV MANE Preferred NP_065394.1:p.=
ENST00000264079.10:c.31+1G>A ENSP00000264079.5:p.=
ENST00000394321.9:n.111+1G>A
ENST00000596390.1:n.147+1G>A
ENST00000601003.1:c.31+1G>A ENSP00000469074.1:p.=