Canonical Allele Identifier: CA382515072

Gene: ATM

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.108272549G>A , CM000673.2:g.108272549G>A	GRCh38
NC_000011.9:g.108143276G>A , CM000673.1:g.108143276G>A	GRCh37
NC_000011.8:g.107648486G>A	NCBI36
NG_009830.1:g.54718G>A , LRG_135:g.54718G>A

Transcript Alleles

HGVS	Amino-acid Change
NM_000051.4:c.3095G>A MANE Select	NP_000042.3:p.Arg1032Lys
ENST00000675843.1:c.3095G>A MANE Select	ENSP00000501606.1:p.Arg1032Lys
NM_000051.3:c.3095G>A , LRG_135t1:c.3095G>A	NP_000042.3:p.Arg1032Lys
NM_001351834.1:c.3095G>A	NP_001338763.1:p.Arg1032Lys
NM_001351834.2:c.3095G>A	NP_001338763.1:p.Arg1032Lys
ENST00000278616.8:c.3095G>A	ENSP00000278616.4:p.Arg1032Lys
ENST00000278616.9:c.3095G>A	ENSP00000278616.4:p.Arg1032Lys
ENST00000452508.6:c.3095G>A	ENSP00000388058.2:p.Arg1032Lys
ENST00000452508.7:c.3095G>A	ENSP00000388058.2:p.Arg1032Lys
ENST00000527805.5:c.3095G>A	ENSP00000435747.1:p.Arg1032Lys
ENST00000527805.6:c.3095G>A	ENSP00000435747.2:p.Arg1032Lys
ENST00000675595.1:c.2930G>A	ENSP00000502563.1:p.Arg977Lys
ENST00000683174.1:n.3245G>A
ENST00000713593.1:c.*2566G>A	ENSP00000518889.1:n.*2566G>A
XM_005271561.3:c.3095G>A	XP_005271618.2:p.Arg1032Lys
XM_005271562.3:c.3095G>A	XP_005271619.2:p.Arg1032Lys
XM_005271562.5:c.3095G>A	XP_005271619.2:p.Arg1032Lys
XM_006718843.2:c.3095G>A	XP_006718906.1:p.Arg1032Lys
XM_006718843.4:c.3095G>A	XP_006718906.1:p.Arg1032Lys
XM_011542840.1:c.3095G>A	XP_011541142.1:p.Arg1032Lys
XM_011542840.3:c.3095G>A	XP_011541142.1:p.Arg1032Lys
XM_011542841.1:c.3095G>A	XP_011541143.1:p.Arg1032Lys
XM_011542842.1:c.2930G>A	XP_011541144.1:p.Arg977Lys
XM_011542842.3:c.2930G>A	XP_011541144.1:p.Arg977Lys
XM_011542843.1:c.3095G>A	XP_011541145.1:p.Arg1032Lys
XM_011542843.2:c.3095G>A	XP_011541145.1:p.Arg1032Lys
XM_011542844.1:c.2051G>A	XP_011541146.1:p.Arg684Lys
XM_011542844.3:c.2051G>A	XP_011541146.1:p.Arg684Lys
XM_011542845.1:c.1787G>A	XP_011541147.1:p.Arg596Lys
XM_011542845.2:c.1787G>A	XP_011541147.1:p.Arg596Lys
XM_011542846.1:c.3095G>A	XP_011541148.1:p.Arg1032Lys
XM_017017789.2:c.3095G>A	XP_016873278.1:p.Arg1032Lys
XM_017017790.2:c.3095G>A	XP_016873279.1:p.Arg1032Lys
XM_017017791.1:c.3095G>A	XP_016873280.1:p.Arg1032Lys
XM_017017792.2:c.3095G>A	XP_016873281.1:p.Arg1032Lys
XR_002957150.1:n.3828G>A