LDH info

Canonical Allele Identifier: CA198508
Gene: NALCN HGNC NCBI

Identifiers and link-outs to other resources

ClinVar Variation Id: 187771
ClinVar RCV Id: RCV000167528
dbSNP Id: rs786203984

User contributed link-outs

Genomic Alleles

HGVS Genome Assembly
NC_000013.11:g.101376814T>G , CM000675.2:g.101376814T>G GRCh38
NC_000013.10:g.102029165T>G , CM000675.1:g.102029165T>G GRCh37
NC_000013.9:g.100827166T>G NCBI36
NG_053176.1:g.45393A>C

Transcript Alleles

HGVS Amino-acid change
NM_052867.2:c.530A>C VV NP_443099.1:p.Gln177Pro
XM_011521067.1:c.587A>C XP_011519369.1:p.Gln196Pro
XM_011521068.1:c.530A>C XP_011519370.1:p.Gln177Pro
XM_011521069.1:c.587A>C XP_011519371.1:p.Gln196Pro
XM_011521070.1:c.587A>C XP_011519372.1:p.Gln196Pro
NM_001350748.1:c.530A>C VV NP_001337677.1:p.Gln177Pro
NM_001350749.1:c.530A>C VV NP_001337678.1:p.Gln177Pro
NM_001350750.1:c.530A>C VV NP_001337679.1:p.Gln177Pro
NM_001350751.1:c.530A>C VV NP_001337680.1:p.Gln177Pro
NM_052867.3:c.530A>C VV NP_443099.1:p.Gln177Pro
XM_011521067.2:c.587A>C XP_011519369.1:p.Gln196Pro
XM_011521069.2:c.587A>C XP_011519371.1:p.Gln196Pro
XM_024449336.1:c.587A>C XP_024305104.1:p.Gln196Pro
NM_052867.4:c.530A>C VV MANE Preferred NP_443099.1:p.Gln177Pro
ENST00000251127.10:c.530A>C ENSP00000251127.6:p.Gln177Pro
ENST00000376200.5:c.530A>C ENSP00000365373.5:p.Gln177Pro
ENST00000470333.1:n.626A>C
ENST00000497170.5:n.719A>C