LDH info

Canonical Allele Identifier: CA2146085
Gene: COL4A3 HGNC NCBI

Identifiers and link-outs to other resources

ClinVar Variation Id: 254996
dbSNP Id: rs10178458

User contributed link-outs

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.227246719T>C , CM000664.2:g.227246719T>C GRCh38
NC_000002.11:g.228111435T>C , CM000664.1:g.228111435T>C GRCh37
NC_000002.10:g.227819679T>C NCBI36
NG_011591.1:g.87155T>C , LRG_230:g.87155T>C

Transcript Alleles

HGVS Amino-acid change
NM_000091.4:c.422T>C , LRG_230t1:c.422T>C NP_000082.2:p.Leu141Pro
NR_102371.1:n.1593-8545A>G
XM_005246276.2:c.422T>C XP_005246333.1:p.Leu141Pro
XM_005246277.2:c.422T>C XP_005246334.1:p.Leu141Pro
XM_005246280.2:c.422T>C XP_005246337.1:p.Leu141Pro
XM_006712245.2:c.422T>C XP_006712308.1:p.Leu141Pro
XM_011510555.1:c.422T>C XP_011508857.1:p.Leu141Pro
XR_241280.2:n.560T>C
XM_005246277.3:c.422T>C XP_005246334.1:p.Leu141Pro
XM_005246280.3:c.422T>C XP_005246337.1:p.Leu141Pro
XM_006712245.3:c.422T>C XP_006712308.1:p.Leu141Pro
XM_017003295.1:c.422T>C XP_016858784.1:p.Leu141Pro
XR_001738601.1:n.560T>C
XR_241280.3:n.560T>C
NM_000091.5:c.422T>C VV MANE Preferred NP_000082.2:p.Leu141Pro
ENST00000396578.7:c.422T>C ENSP00000379823.3:p.Leu141Pro