LDH info

Canonical Allele Identifier: CA354362730
Gene: CASR HGNC NCBI

Identifiers and link-outs to other resources

ClinVar Variation Id: 652364
ClinVar RCV Id: RCV000807902

Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.122257255T>G , CM000665.2:g.122257255T>G GRCh38
NC_000003.11:g.121976102T>G , CM000665.1:g.121976102T>G GRCh37
NC_000003.10:g.123458792T>G NCBI36
NG_009058.1:g.78573T>G
NG_009058.2:g.78588T>G

Transcript Alleles

HGVS Amino-acid change
NM_000388.3:c.360T>G VV NP_000379.2:p.Ile120Met
NM_001178065.1:c.360T>G VV NP_001171536.1:p.Ile120Met
XM_005247836.2:c.360T>G XP_005247893.1:p.Ile120Met
XM_005247837.2:c.9+2881T>G XP_005247894.1:p.=
XM_006713789.2:c.360T>G XP_006713852.1:p.Ile120Met
XM_011513237.1:c.360T>G XP_011511539.1:p.Ile120Met
XM_011513238.1:c.360T>G XP_011511540.1:p.Ile120Met
XM_006713789.3:c.360T>G XP_006713852.1:p.Ile120Met
XM_017007324.1:c.360T>G XP_016862813.1:p.Ile120Met
XM_017007325.1:c.360T>G XP_016862814.1:p.Ile120Met
NM_000388.4:c.360T>G VV MANE Preferred NP_000379.3:p.Ile120Met
NM_001178065.2:c.360T>G VV NP_001171536.2:p.Ile120Met
ENST00000490131.5:c.360T>G ENSP00000418685.1:p.Ile120Met
ENST00000490186.1:n.219T>G
ENST00000498619.2:c.360T>G ENSP00000420194.1:p.Ile120Met