LDH info

Canonical Allele Identifier: CA259867
Gene: GALC HGNC NCBI

Identifiers and link-outs to other resources

ClinVar Variation Id: 30619
dbSNP Id: rs199847983

User contributed link-outs

Genomic Alleles

HGVS Genome Assembly
NC_000014.9:g.87968386C>T , CM000676.2:g.87968386C>T GRCh38
NC_000014.8:g.88434730C>T , CM000676.1:g.88434730C>T GRCh37
NC_000014.7:g.87504483C>T NCBI36
NG_011853.2:g.30178G>A
NG_011853.3:g.30178G>A

Transcript Alleles

HGVS Amino-acid change
NM_000153.3:c.857G>A VV NP_000144.2:p.Gly286Asp
NM_001201401.1:c.788G>A VV NP_001188330.1:p.Gly263Asp
NM_001201402.1:c.779G>A VV NP_001188331.1:p.Gly260Asp
XM_011536618.1:c.689G>A XP_011534920.1:p.Gly230Asp
XM_011536618.2:c.689G>A XP_011534920.1:p.Gly230Asp
NM_000153.4:c.857G>A VV MANE Preferred NP_000144.2:p.Gly286Asp
ENST00000261304.6:c.857G>A ENSP00000261304.2:p.Gly286Asp
ENST00000393568.8:c.788G>A ENSP00000377198.4:p.Gly263Asp
ENST00000393569.6:c.779G>A ENSP00000377199.2:p.Gly260Asp
ENST00000474294.6:n.847G>A
ENST00000544807.6:c.689G>A ENSP00000437513.2:p.Gly230Asp
ENST00000555000.5:c.224G>A ENSP00000450472.1:p.Gly75Asp
ENST00000557316.5:c.*255G>A ENSP00000452314.1:p.=
ENST00000622264.4:n.847G>A