Canonical Allele Identifier: CA382543878
Gene: ATM HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.108267278T>A , CM000673.2:g.108267278T>A GRCh38
NC_000011.9:g.108138005T>A , CM000673.1:g.108138005T>A GRCh37
NC_000011.8:g.107643215T>A NCBI36
NG_009830.1:g.49447T>A , LRG_135:g.49447T>A

Transcript Alleles

HGVS Amino-acid change
ENST00000527805.6:c.2574T>A ENSP00000435747.2:p.Phe858Leu
ENST00000675595.1:c.2409T>A ENSP00000502563.1:p.Phe803Leu
ENST00000675843.1:c.2574T>A MANE Select ENSP00000501606.1:p.Phe858Leu
ENST00000278616.8:c.2574T>A ENSP00000278616.4:p.Phe858Leu
ENST00000452508.6:c.2574T>A ENSP00000388058.2:p.Phe858Leu
ENST00000527805.5:c.2574T>A ENSP00000435747.1:p.Phe858Leu
NM_000051.3:c.2574T>A , LRG_135t1:c.2574T>A NP_000042.3:p.Phe858Leu
XM_005271561.3:c.2574T>A XP_005271618.2:p.Phe858Leu
XM_005271562.3:c.2574T>A XP_005271619.2:p.Phe858Leu
XM_006718843.2:c.2574T>A XP_006718906.1:p.Phe858Leu
XM_011542840.1:c.2574T>A XP_011541142.1:p.Phe858Leu
XM_011542841.1:c.2574T>A XP_011541143.1:p.Phe858Leu
XM_011542842.1:c.2409T>A XP_011541144.1:p.Phe803Leu
XM_011542843.1:c.2574T>A XP_011541145.1:p.Phe858Leu
XM_011542844.1:c.1530T>A XP_011541146.1:p.Phe510Leu
XM_011542845.1:c.1266T>A XP_011541147.1:p.Phe422Leu
XM_011542846.1:c.2574T>A XP_011541148.1:p.Phe858Leu
NM_001351834.1:c.2574T>A NP_001338763.1:p.Phe858Leu
XM_005271562.5:c.2574T>A XP_005271619.2:p.Phe858Leu
XM_006718843.4:c.2574T>A XP_006718906.1:p.Phe858Leu
XM_011542840.3:c.2574T>A XP_011541142.1:p.Phe858Leu
XM_011542842.3:c.2409T>A XP_011541144.1:p.Phe803Leu
XM_011542843.2:c.2574T>A XP_011541145.1:p.Phe858Leu
XM_011542844.3:c.1530T>A XP_011541146.1:p.Phe510Leu
XM_011542845.2:c.1266T>A XP_011541147.1:p.Phe422Leu
XM_017017789.2:c.2574T>A XP_016873278.1:p.Phe858Leu
XM_017017790.2:c.2574T>A XP_016873279.1:p.Phe858Leu
XM_017017791.1:c.2574T>A XP_016873280.1:p.Phe858Leu
XM_017017792.2:c.2574T>A XP_016873281.1:p.Phe858Leu
XR_002957150.1:n.3307T>A
NM_001351834.2:c.2574T>A NP_001338763.1:p.Phe858Leu
NM_000051.4:c.2574T>A MANE Select NP_000042.3:p.Phe858Leu