LDH info

Canonical Allele Identifier: CA258158
Gene: ACTG1 HGNC NCBI

Identifiers and link-outs to other resources

ClinVar Variation Id: 18317
ClinVar RCV Id: RCV000019982
dbSNP Id: rs104894545

User contributed link-outs

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.81510824G>C , CM000679.2:g.81510824G>C GRCh38
NC_000017.10:g.79477850G>C , CM000679.1:g.79477850G>C GRCh37
NC_000017.9:g.77092445G>C NCBI36
NG_011433.1:g.6978C>G

Transcript Alleles

HGVS Amino-acid change
NM_001199954.1:c.994C>G VV NP_001186883.1:p.Pro332Ala
NM_001614.3:c.994C>G VV NP_001605.1:p.Pro332Ala
NR_037688.1:n.1133C>G
NM_001199954.2:c.994C>G VV NP_001186883.1:p.Pro332Ala
NM_001614.4:c.994C>G VV NP_001605.1:p.Pro332Ala
NR_037688.2:n.1066C>G
NM_001614.5:c.994C>G VV MANE Preferred NP_001605.1:p.Pro332Ala
NR_037688.3:n.1066C>G
ENST00000331925.6:c.994C>G ENSP00000331514.2:p.Pro332Ala
ENST00000572105.6:c.*438C>G ENSP00000462823.1:p.=
ENST00000573283.5:c.994C>G ENSP00000458435.1:p.Pro332Ala
ENST00000574671.5:n.853C>G
ENST00000575087.5:c.994C>G ENSP00000459124.1:p.Pro332Ala
ENST00000575842.5:c.994C>G ENSP00000458162.1:p.Pro332Ala
ENST00000576209.5:n.879C>G
ENST00000576544.5:c.994C>G ENSP00000461672.1:p.Pro332Ala
ENST00000576917.5:n.1126C>G
ENST00000615544.4:c.994C>G ENSP00000477968.1:p.Pro332Ala