LDH info

Canonical Allele Identifier: CA15686553
Gene: ATM HGNC NCBI
C11orf65 HGNC NCBI

Identifiers and link-outs to other resources

dbSNP Id: rs664143

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.108354934A>G , CM000673.2:g.108354934A>G GRCh38
NC_000011.9:g.108225661A>G , CM000673.1:g.108225661A>G GRCh37
NC_000011.8:g.107730871A>G NCBI36
NG_009830.1:g.137103A>G , LRG_135:g.137103A>G
NG_054724.1:g.119899T>C

Transcript Alleles

HGVS Amino-acid change
NM_000051.3:c.8850+60A>G , LRG_135t1:c.8850+60A>G (ATM) NP_000042.3:p.=
XM_005271414.3:c.788-19642T>C (C11orf65) XP_005271471.1:p.=
XM_005271415.3:c.732-19642T>C (C11orf65) XP_005271472.1:p.=
XM_005271561.3:c.8850+60A>G (ATM) XP_005271618.2:p.=
XM_005271562.3:c.8850+60A>G (ATM) XP_005271619.2:p.=
XM_006718843.2:c.8850+60A>G (ATM) XP_006718906.1:p.=
XM_006718845.1:c.4806+60A>G (ATM) XP_006718908.1:p.=
XM_011542640.1:c.788-14570T>C (C11orf65) XP_011540942.1:p.=
XM_011542642.1:c.732-5861T>C (C11orf65) XP_011540944.1:p.=
XM_011542643.1:c.732-14570T>C (C11orf65) XP_011540945.1:p.=
XM_011542840.1:c.8850+60A>G (ATM) XP_011541142.1:p.=
XM_011542841.1:c.8850+60A>G (ATM) XP_011541143.1:p.=
XM_011542842.1:c.8685+60A>G (ATM) XP_011541144.1:p.=
XM_011542844.1:c.7806+60A>G (ATM) XP_011541146.1:p.=
XM_011542845.1:c.7542+60A>G (ATM) XP_011541147.1:p.=
XM_011542847.1:c.3921+60A>G (ATM) XP_011541149.1:p.=
NM_001330368.1:c.640+30986T>C (C11orf65) VV NP_001317297.1:p.=
NM_001351110.1:c.695-19642T>C (C11orf65) VV NP_001338039.1:p.=
NM_001351834.1:c.8850+60A>G (ATM) VV NP_001338763.1:p.=
NR_147053.2:n.2282T>C (C11orf65)
XM_005271414.4:c.788-19642T>C (C11orf65) XP_005271471.1:p.=
XM_005271415.4:c.732-19642T>C (C11orf65) XP_005271472.1:p.=
XM_005271562.5:c.8850+60A>G (ATM) XP_005271619.2:p.=
XM_006718843.4:c.8850+60A>G (ATM) XP_006718906.1:p.=
XM_006718845.2:c.4806+60A>G (ATM) XP_006718908.1:p.=
XM_011542640.2:c.788-14570T>C (C11orf65) XP_011540942.1:p.=
XM_011542643.2:c.732-14570T>C (C11orf65) XP_011540945.1:p.=
XM_011542840.3:c.8850+60A>G (ATM) XP_011541142.1:p.=
XM_011542842.3:c.8685+60A>G (ATM) XP_011541144.1:p.=
XM_011542844.3:c.7806+60A>G (ATM) XP_011541146.1:p.=
XM_011542845.2:c.7542+60A>G (ATM) XP_011541147.1:p.=
XM_017017247.1:c.904-14570T>C (C11orf65) XP_016872736.1:p.=
XM_017017789.2:c.8850+60A>G (ATM) XP_016873278.1:p.=
XM_017017790.2:c.8850+60A>G (ATM) XP_016873279.1:p.=
NM_001330368.2:c.640+30986T>C (C11orf65) VV NP_001317297.1:p.=
NM_001351110.2:c.695-19642T>C (C11orf65) VV NP_001338039.1:p.=
NM_001351834.2:c.8850+60A>G (ATM) VV NP_001338763.1:p.=
ENST00000278616.8:c.8850+60A>G ENSP00000278616.4:p.=
ENST00000452508.6:c.8850+60A>G ENSP00000388058.2:p.=
ENST00000524755.5:n.227-19642T>C
ENST00000524792.5:n.5065+60A>G
ENST00000525178.5:n.338+60A>G
ENST00000525729.5:c.640+30986T>C ENSP00000433395.1:p.=
ENST00000526725.1:n.272-14570T>C
ENST00000527181.1:n.189+60A>G
ENST00000527531.5:c.*1177T>C ENSP00000431706.1:p.=
ENST00000615746.4:c.*1177T>C ENSP00000483537.1:p.=