LDH info

Canonical Allele Identifier: CA253199
Gene: WFS1 HGNC NCBI

Identifiers and link-outs to other resources

ClinVar Variation Id: 4521
dbSNP Id: rs104893883

User contributed link-outs

Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.6302281T>C , CM000666.2:g.6302281T>C GRCh38
NC_000004.11:g.6304008T>C , CM000666.1:g.6304008T>C GRCh37
NC_000004.10:g.6354909T>C NCBI36
NG_011700.1:g.37432T>C

Transcript Alleles

HGVS Amino-acid change
NM_001145853.1:c.2486T>C VV NP_001139325.1:p.Leu829Pro
NM_006005.3:c.2486T>C VV MANE Preferred NP_005996.2:p.Leu829Pro
XM_017008586.1:c.2495T>C XP_016864075.1:p.Leu832Pro
ENST00000226760.5:c.2486T>C ENSP00000226760.1:p.Leu829Pro
ENST00000503569.5:c.2486T>C ENSP00000423337.1:p.Leu829Pro
ENST00000507765.1:n.2671T>C