LDH info

Canonical Allele Identifier: CA16041989
Gene: MCOLN1 HGNC NCBI

Identifiers and link-outs to other resources

ClinVar Variation Id: 371144
ClinVar RCV Id: RCV000410830
dbSNP Id: rs1057517040

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.7528235_7528236insA , CM000681.2:g.7528235_7528236insA GRCh38
NC_000019.9:g.7593121_7593122insA , CM000681.1:g.7593121_7593122insA GRCh37
NC_000019.8:g.7499121_7499122insA NCBI36
NG_015806.1:g.10626_10627insA

Transcript Alleles

HGVS Amino-acid change
NM_020533.2:c.855_856insA VV NP_065394.1:p.His286ThrfsTer17
NM_020533.3:c.855_856insA VV MANE Preferred NP_065394.1:p.His286ThrfsTer17
ENST00000264079.10:c.855_856insA ENSP00000264079.5:p.His286ThrfsTer17
ENST00000394321.9:n.1170_1171insA