Canonical Allele Identifier: CA382532261
Gene: ATM HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.108289786A>C , CM000673.2:g.108289786A>C GRCh38
NC_000011.9:g.108160513A>C , CM000673.1:g.108160513A>C GRCh37
NC_000011.8:g.107665723A>C NCBI36
NG_009830.1:g.71955A>C , LRG_135:g.71955A>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000452508.7:c.4421A>C ENSP00000388058.2:p.His1474Pro
ENST00000713593.1:c.*3892A>C ENSP00000518889.1:n.*3892A>C
ENST00000278616.9:c.4421A>C ENSP00000278616.4:p.His1474Pro
ENST00000533733.6:n.1684A>C
ENST00000683174.1:n.4571A>C
ENST00000527805.6:c.4421A>C ENSP00000435747.2:p.His1474Pro
ENST00000675595.1:c.4256A>C ENSP00000502563.1:p.His1419Pro
ENST00000675843.1:c.4421A>C MANE Select ENSP00000501606.1:p.His1474Pro
ENST00000278616.8:c.4421A>C ENSP00000278616.4:p.His1474Pro
ENST00000452508.6:c.4421A>C ENSP00000388058.2:p.His1474Pro
ENST00000524792.5:n.636A>C
ENST00000531525.2:c.428A>C ENSP00000434327.2:p.His143Pro
ENST00000533733.5:n.850A>C
NM_000051.3:c.4421A>C , LRG_135t1:c.4421A>C NP_000042.3:p.His1474Pro
XM_005271561.3:c.4421A>C XP_005271618.2:p.His1474Pro
XM_005271562.3:c.4421A>C XP_005271619.2:p.His1474Pro
XM_006718843.2:c.4421A>C XP_006718906.1:p.His1474Pro
XM_006718845.1:c.377A>C XP_006718908.1:p.His126Pro
XM_011542840.1:c.4421A>C XP_011541142.1:p.His1474Pro
XM_011542841.1:c.4421A>C XP_011541143.1:p.His1474Pro
XM_011542842.1:c.4256A>C XP_011541144.1:p.His1419Pro
XM_011542843.1:c.4421A>C XP_011541145.1:p.His1474Pro
XM_011542844.1:c.3377A>C XP_011541146.1:p.His1126Pro
XM_011542845.1:c.3113A>C XP_011541147.1:p.His1038Pro
XM_011542846.1:c.4421A>C XP_011541148.1:p.His1474Pro
NM_001351834.1:c.4421A>C NP_001338763.1:p.His1474Pro
XM_005271562.5:c.4421A>C XP_005271619.2:p.His1474Pro
XM_006718843.4:c.4421A>C XP_006718906.1:p.His1474Pro
XM_006718845.2:c.377A>C XP_006718908.1:p.His126Pro
XM_011542840.3:c.4421A>C XP_011541142.1:p.His1474Pro
XM_011542842.3:c.4256A>C XP_011541144.1:p.His1419Pro
XM_011542843.2:c.4421A>C XP_011541145.1:p.His1474Pro
XM_011542844.3:c.3377A>C XP_011541146.1:p.His1126Pro
XM_011542845.2:c.3113A>C XP_011541147.1:p.His1038Pro
XM_017017789.2:c.4421A>C XP_016873278.1:p.His1474Pro
XM_017017790.2:c.4421A>C XP_016873279.1:p.His1474Pro
XM_017017791.1:c.4421A>C XP_016873280.1:p.His1474Pro
XM_017017792.2:c.4421A>C XP_016873281.1:p.His1474Pro
XR_002957150.1:n.5154A>C
NM_001351834.2:c.4421A>C NP_001338763.1:p.His1474Pro
NM_000051.4:c.4421A>C MANE Select NP_000042.3:p.His1474Pro