LDH info

Canonical Allele Identifier: CA019967
Gene: ACTC1 HGNC NCBI

Identifiers and link-outs to other resources

ClinVar Variation Id: 177886
dbSNP Id: rs727504379

Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.34791238A>G , CM000677.2:g.34791238A>G GRCh38
NC_000015.9:g.35083439A>G , CM000677.1:g.35083439A>G GRCh37
NC_000015.8:g.32870731A>G NCBI36
NG_007553.1:g.9489T>C , LRG_388:g.9489T>C

Transcript Alleles

HGVS Amino-acid change
NM_005159.4:c.866T>C , LRG_388t1:c.866T>C NP_005150.1:p.Ile289Thr
NR_120329.1:n.299+13807A>G
NM_005159.5:c.866T>C VV MANE Preferred NP_005150.1:p.Ile289Thr
ENST00000290378.4:c.866T>C ENSP00000290378.4:p.Ile289Thr
ENST00000557860.1:n.556T>C