LDH info

Canonical Allele Identifier: CA122041

Identifiers and link-outs to other resources

ClinVar Variation Id: 12270
ClinVar RCV Id: RCV000013058
dbSNP Id: rs72551348

User contributed link-outs

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.233767161A>G , CM000664.2:g.233767161A>G GRCh38
NC_000002.11:g.234675807A>G , CM000664.1:g.234675807A>G GRCh37
NC_000002.10:g.234340546A>G NCBI36
NG_002601.2:g.182418A>G
NG_033238.1:g.11889A>G , LRG_733:g.11889A>G

Transcript Alleles

HGVS Amino-acid change
NM_000463.2:c.992A>G , LRG_733t1:c.992A>G (UGT1A1) NP_000454.1:p.Gln331Arg
NM_001072.3:c.989A>G (UGT1A6) VV NP_001063.2:p.Gln330Arg
NM_007120.2:c.995A>G (UGT1A4) VV NP_009051.1:p.Gln332Arg
NM_019075.2:c.983A>G (UGT1A10) VV NP_061948.1:p.Gln328Arg
NM_019076.4:c.983A>G (UGT1A8) VV NP_061949.3:p.Gln328Arg
NM_019077.2:n.983A>G (UGT1A7) VV NP_061950.2:p.Gln328Arg
NM_019078.1:n.995A>G (UGT1A5) VV NP_061951.1:p.Gln332Arg
NM_019093.2:n.995A>G (UGT1A3) VV NP_061966.1:p.Gln332Arg
NM_021027.2:c.983A>G (UGT1A9) VV NP_066307.1:p.Gln328Arg
NM_205862.1:c.188A>G (UGT1A6) VV NP_995584.1:p.Gln63Arg
NM_001072.4:c.989A>G (UGT1A6) VV NP_001063.2:p.Gln330Arg
NM_021027.3:c.983A>G (UGT1A9) VV NP_066307.1:p.Gln328Arg
ENST00000305139.10:c.989A>G ENSP00000303174.6:p.Gln330Arg
ENST00000305208.9:c.992A>G ENSP00000304845.5:p.Gln331Arg
ENST00000344644.9:c.983A>G ENSP00000343838.5:p.Gln328Arg
ENST00000354728.4:c.983A>G ENSP00000346768.4:p.Gln328Arg
ENST00000360418.4:n.992A>G ENSP00000353593.3:p.Gln331Arg
ENST00000373409.7:c.995A>G ENSP00000362508.3:p.Gln332Arg
ENST00000373414.3:n.995A>G ENSP00000362513.3:p.Gln332Arg
ENST00000373424.5:c.188A>G ENSP00000362523.1:p.Gln63Arg
ENST00000373426.3:n.983A>G ENSP00000362525.3:p.Gln328Arg
ENST00000373445.1:c.983A>G ENSP00000362544.1:p.Gln328Arg
ENST00000373450.4:c.983A>G ENSP00000362549.4:p.Gln328Arg
ENST00000406651.1:c.188A>G ENSP00000386107.1:p.Gln63Arg
ENST00000446481.6:c.188A>G ENSP00000401541.1:p.Gln63Arg
ENST00000450233.1:n.995A>G ENSP00000408608.1:p.Gln332Arg
ENST00000482026.5:c.995A>G ENSP00000418532.1:p.Gln332Arg