LDH info

Canonical Allele Identifier: CA347389
Gene: MCOLN1 HGNC NCBI

Identifiers and link-outs to other resources

ClinVar Variation Id: 208035
ClinVar RCV Id: RCV000193511
dbSNP Id: rs797044828

User contributed link-outs

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.7530321C>G , CM000681.2:g.7530321C>G GRCh38
NC_000019.9:g.7595207C>G , CM000681.1:g.7595207C>G GRCh37
NC_000019.8:g.7501207C>G NCBI36
NG_013374.1:g.1170C>G
NG_015806.1:g.12712C>G

Transcript Alleles

HGVS Amino-acid change
NM_020533.2:c.1395C>G VV NP_065394.1:p.Phe465Leu
NM_020533.3:c.1395C>G VV MANE Preferred NP_065394.1:p.Phe465Leu
ENST00000264079.10:c.1395C>G ENSP00000264079.5:p.Phe465Leu
ENST00000394321.9:n.1710C>G
ENST00000594692.1:n.391C>G
ENST00000595860.5:n.578C>G
ENST00000599334.1:n.237-114C>G