LDH info

Canonical Allele Identifier: CA151917
Gene: ATM HGNC NCBI

Identifiers and link-outs to other resources

ClinVar Variation Id: 128454
dbSNP Id: rs4986761
COSMIC: COSM41595

User contributed link-outs

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.108254034T>C , CM000673.2:g.108254034T>C GRCh38
NC_000011.9:g.108124761T>C , CM000673.1:g.108124761T>C GRCh37
NC_000011.8:g.107629971T>C NCBI36
NG_009830.1:g.36203T>C , LRG_135:g.36203T>C

Transcript Alleles

HGVS Amino-acid change
NM_000051.3:c.2119T>C , LRG_135t1:c.2119T>C NP_000042.3:p.Ser707Pro
XM_005271561.3:c.2119T>C XP_005271618.2:p.Ser707Pro
XM_005271562.3:c.2119T>C XP_005271619.2:p.Ser707Pro
XM_006718843.2:c.2119T>C XP_006718906.1:p.Ser707Pro
XM_011542840.1:c.2119T>C XP_011541142.1:p.Ser707Pro
XM_011542841.1:c.2119T>C XP_011541143.1:p.Ser707Pro
XM_011542842.1:c.1954T>C XP_011541144.1:p.Ser652Pro
XM_011542843.1:c.2119T>C XP_011541145.1:p.Ser707Pro
XM_011542844.1:c.1075T>C XP_011541146.1:p.Ser359Pro
XM_011542845.1:c.811T>C XP_011541147.1:p.Ser271Pro
XM_011542846.1:c.2119T>C XP_011541148.1:p.Ser707Pro
NM_001351834.1:c.2119T>C VV NP_001338763.1:p.Ser707Pro
XM_005271562.5:c.2119T>C XP_005271619.2:p.Ser707Pro
XM_006718843.4:c.2119T>C XP_006718906.1:p.Ser707Pro
XM_011542840.3:c.2119T>C XP_011541142.1:p.Ser707Pro
XM_011542842.3:c.1954T>C XP_011541144.1:p.Ser652Pro
XM_011542843.2:c.2119T>C XP_011541145.1:p.Ser707Pro
XM_011542844.3:c.1075T>C XP_011541146.1:p.Ser359Pro
XM_011542845.2:c.811T>C XP_011541147.1:p.Ser271Pro
XM_017017789.2:c.2119T>C XP_016873278.1:p.Ser707Pro
XM_017017790.2:c.2119T>C XP_016873279.1:p.Ser707Pro
XM_017017791.1:c.2119T>C XP_016873280.1:p.Ser707Pro
XM_017017792.2:c.2119T>C XP_016873281.1:p.Ser707Pro
XR_002957150.1:n.2852T>C
ENST00000278616.8:c.2119T>C ENSP00000278616.4:p.Ser707Pro
ENST00000452508.6:c.2119T>C ENSP00000388058.2:p.Ser707Pro
ENST00000527805.5:c.2119T>C ENSP00000435747.1:p.Ser707Pro