LDH info

Canonical Allele Identifier: CA251561
Gene: F5 HGNC NCBI

Identifiers and link-outs to other resources

ClinVar Variation Id: 655
ClinVar RCV Id: RCV000000689
dbSNP Id: rs118203911

User contributed link-outs

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.169552693A>G , CM000663.2:g.169552693A>G GRCh38
NC_000001.10:g.169521931A>G , CM000663.1:g.169521931A>G GRCh37
NC_000001.9:g.167788555A>G NCBI36
NG_011806.1:g.38839T>C , LRG_553:g.38839T>C

Transcript Alleles

HGVS Amino-acid change
NM_000130.4:c.1160T>C , LRG_553t1:c.1160T>C NP_000121.2:p.Ile387Thr
XM_017000660.2:c.749T>C XP_016856149.1:p.Ile250Thr
NM_000130.5:c.1160T>C VV MANE Preferred NP_000121.2:p.Ile387Thr
ENST00000367796.3:c.1160T>C ENSP00000356770.3:p.Ile387Thr
ENST00000367797.7:c.1160T>C ENSP00000356771.3:p.Ile387Thr