LDH info

Canonical Allele Identifier: CA114449
Gene: NAT2 HGNC NCBI

Identifiers and link-outs to other resources

ClinVar Variation Id: 723
ClinVar RCV Id: RCV000000759
dbSNP Id: rs1801280

User contributed link-outs

Genomic Alleles

HGVS Genome Assembly
NC_000008.11:g.18400344T>C , CM000670.2:g.18400344T>C GRCh38
NC_000008.10:g.18257854T>C , CM000670.1:g.18257854T>C GRCh37
NC_000008.9:g.18302134T>C NCBI36
NG_012246.1:g.14100T>C

Transcript Alleles

HGVS Amino-acid change
NM_000015.2:c.341T>C VV NP_000006.2:p.Ile114Thr
XM_011544358.1:c.341T>C XP_011542660.1:p.Ile114Thr
XM_017012938.1:c.341T>C XP_016868427.1:p.Ile114Thr
NM_000015.3:c.341T>C VV MANE Preferred NP_000006.2:p.Ile114Thr
ENST00000286479.3:c.341T>C ENSP00000286479.3:p.Ile114Thr
ENST00000520116.1:c.-50T>C ENSP00000428416.1:p.=