LDH info

Canonical Allele Identifier: CA347391
Gene: MCOLN1 HGNC NCBI

Identifiers and link-outs to other resources

ClinVar Variation Id: 208038
ClinVar RCV Id: RCV000193619
dbSNP Id: rs797044830

User contributed link-outs

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.7526503_7526504del , CM000681.2:g.7526503_7526504del GRCh38
NC_000019.9:g.7591389_7591390del , CM000681.1:g.7591389_7591390del GRCh37
NC_000019.8:g.7497389_7497390del NCBI36
NG_015806.1:g.8894_8895del

Transcript Alleles

HGVS Amino-acid change
NM_020533.2:c.302_303del VV NP_065394.1:p.Phe101SerfsTer14
NM_020533.3:c.302_303del VV MANE Preferred NP_065394.1:p.Phe101SerfsTer14
ENST00000264079.10:c.302_303del ENSP00000264079.5:p.Phe101SerfsTer14
ENST00000394321.9:n.382_383del
ENST00000596008.1:n.264_265del
ENST00000598406.1:n.123_124del
ENST00000601003.1:c.302_303del ENSP00000469074.1:p.Phe101SerfsTer14