LDH info

Canonical Allele Identifier: CA354362751
Gene: CASR HGNC NCBI

Identifiers and link-outs to other resources

Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.122257264G>C , CM000665.2:g.122257264G>C GRCh38
NC_000003.11:g.121976111G>C , CM000665.1:g.121976111G>C GRCh37
NC_000003.10:g.123458801G>C NCBI36
NG_009058.1:g.78582G>C
NG_009058.2:g.78597G>C

Transcript Alleles

HGVS Amino-acid change
NM_000388.3:c.369G>C VV NP_000379.2:p.Leu123Phe
NM_001178065.1:c.369G>C VV NP_001171536.1:p.Leu123Phe
XM_005247836.2:c.369G>C XP_005247893.1:p.Leu123Phe
XM_005247837.2:c.9+2890G>C XP_005247894.1:p.=
XM_006713789.2:c.369G>C XP_006713852.1:p.Leu123Phe
XM_011513237.1:c.369G>C XP_011511539.1:p.Leu123Phe
XM_011513238.1:c.369G>C XP_011511540.1:p.Leu123Phe
XM_006713789.3:c.369G>C XP_006713852.1:p.Leu123Phe
XM_017007324.1:c.369G>C XP_016862813.1:p.Leu123Phe
XM_017007325.1:c.369G>C XP_016862814.1:p.Leu123Phe
NM_000388.4:c.369G>C VV MANE Preferred NP_000379.3:p.Leu123Phe
NM_001178065.2:c.369G>C VV NP_001171536.2:p.Leu123Phe
ENST00000490131.5:c.369G>C ENSP00000418685.1:p.Leu123Phe
ENST00000490186.1:n.228G>C
ENST00000498619.2:c.369G>C ENSP00000420194.1:p.Leu123Phe