LDH info

Canonical Allele Identifier: CA127858

Identifiers and link-outs to other resources

ClinVar Variation Id: 18171
dbSNP Id: rs669

User contributed link-outs

Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.9079672T>C , CM000674.2:g.9079672T>C GRCh38
NC_000012.11:g.9232268T>C , CM000674.1:g.9232268T>C GRCh37
NC_000012.10:g.9123535T>C NCBI36
NG_011717.1:g.41291A>G

Transcript Alleles

HGVS Amino-acid change
NM_000014.4:c.2998A>G (A2M) VV NP_000005.2:p.Ile1000Val
XM_006719056.2:c.2998A>G (A2M) XP_006719119.1:p.Ile1000Val
NM_000014.5:c.2998A>G (A2M) VV NP_000005.2:p.Ile1000Val
NM_001347423.1:c.2998A>G (A2M) VV NP_001334352.1:p.Ile1000Val
NM_001347424.1:c.2698A>G (A2M) VV NP_001334353.1:p.Ile900Val
NM_001347425.1:c.2548A>G (A2M) VV NP_001334354.1:p.Ile850Val
XM_006719056.3:c.2998A>G (A2M) XP_006719119.1:p.Ile1000Val
XM_017018683.1:c.*33+21506T>C (KLRG1) XP_016874172.1:p.=
XM_017018684.1:c.*33+21506T>C (KLRG1) XP_016874173.1:p.=
XM_017018685.1:c.*33+21506T>C (KLRG1) XP_016874174.1:p.=
ENST00000318602.11:c.2998A>G ENSP00000323929.7:p.Ile1000Val
ENST00000542567.1:n.353A>G
ENST00000543436.2:n.451+10240A>G
ENST00000545828.1:n.349-6951A>G