LDH info

Canonical Allele Identifier: CA248696
Gene: ATM HGNC NCBI

Identifiers and link-outs to other resources

ClinVar Variation Id: 128456
dbSNP Id: rs1800058

User contributed link-outs

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.108289623C>T , CM000673.2:g.108289623C>T GRCh38
NC_000011.9:g.108160350C>T , CM000673.1:g.108160350C>T GRCh37
NC_000011.8:g.107665560C>T NCBI36
NG_009830.1:g.71792C>T , LRG_135:g.71792C>T

Transcript Alleles

HGVS Amino-acid change
NM_000051.3:c.4258C>T , LRG_135t1:c.4258C>T NP_000042.3:p.Leu1420Phe
XM_005271561.3:c.4258C>T XP_005271618.2:p.Leu1420Phe
XM_005271562.3:c.4258C>T XP_005271619.2:p.Leu1420Phe
XM_006718843.2:c.4258C>T XP_006718906.1:p.Leu1420Phe
XM_006718845.1:c.214C>T XP_006718908.1:p.Leu72Phe
XM_011542840.1:c.4258C>T XP_011541142.1:p.Leu1420Phe
XM_011542841.1:c.4258C>T XP_011541143.1:p.Leu1420Phe
XM_011542842.1:c.4093C>T XP_011541144.1:p.Leu1365Phe
XM_011542843.1:c.4258C>T XP_011541145.1:p.Leu1420Phe
XM_011542844.1:c.3214C>T XP_011541146.1:p.Leu1072Phe
XM_011542845.1:c.2950C>T XP_011541147.1:p.Leu984Phe
XM_011542846.1:c.4258C>T XP_011541148.1:p.Leu1420Phe
NM_001351834.1:c.4258C>T VV NP_001338763.1:p.Leu1420Phe
XM_005271562.5:c.4258C>T XP_005271619.2:p.Leu1420Phe
XM_006718843.4:c.4258C>T XP_006718906.1:p.Leu1420Phe
XM_006718845.2:c.214C>T XP_006718908.1:p.Leu72Phe
XM_011542840.3:c.4258C>T XP_011541142.1:p.Leu1420Phe
XM_011542842.3:c.4093C>T XP_011541144.1:p.Leu1365Phe
XM_011542843.2:c.4258C>T XP_011541145.1:p.Leu1420Phe
XM_011542844.3:c.3214C>T XP_011541146.1:p.Leu1072Phe
XM_011542845.2:c.2950C>T XP_011541147.1:p.Leu984Phe
XM_017017789.2:c.4258C>T XP_016873278.1:p.Leu1420Phe
XM_017017790.2:c.4258C>T XP_016873279.1:p.Leu1420Phe
XM_017017791.1:c.4258C>T XP_016873280.1:p.Leu1420Phe
XM_017017792.2:c.4258C>T XP_016873281.1:p.Leu1420Phe
XR_002957150.1:n.4991C>T
ENST00000278616.8:c.4258C>T ENSP00000278616.4:p.Leu1420Phe
ENST00000452508.6:c.4258C>T ENSP00000388058.2:p.Leu1420Phe
ENST00000524792.5:n.473C>T
ENST00000531525.2:n.265C>T ENSP00000434327.2:p.Leu89Phe
ENST00000533733.5:n.687C>T