LDH info

Canonical Allele Identifier: CA114447
Gene: NAT2 HGNC NCBI

Identifiers and link-outs to other resources

ClinVar Variation Id: 722
dbSNP Id: rs1799930

User contributed link-outs

Genomic Alleles

HGVS Genome Assembly
NC_000008.11:g.18400593G>A , CM000670.2:g.18400593G>A GRCh38
NC_000008.10:g.18258103G>A , CM000670.1:g.18258103G>A GRCh37
NC_000008.9:g.18302383G>A NCBI36
NG_012246.1:g.14349G>A

Transcript Alleles

HGVS Amino-acid change
NM_000015.2:c.590G>A VV NP_000006.2:p.Arg197Gln
XM_011544358.1:c.590G>A XP_011542660.1:p.Arg197Gln
XM_017012938.1:c.590G>A XP_016868427.1:p.Arg197Gln
NM_000015.3:c.590G>A VV MANE Preferred NP_000006.2:p.Arg197Gln
ENST00000286479.3:c.590G>A ENSP00000286479.3:p.Arg197Gln
ENST00000520116.1:c.200G>A ENSP00000428416.1:p.Arg67Gln