Canonical Allele Identifier: CA476674755

Gene: ATM

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.108301658C>A , CM000673.2:g.108301658C>A	GRCh38
NC_000011.9:g.108172385C>A , CM000673.1:g.108172385C>A	GRCh37
NC_000011.8:g.107677595C>A	NCBI36
NG_009830.1:g.83827C>A , LRG_135:g.83827C>A

Transcript Alleles

HGVS	Amino-acid Change
NM_000051.4:c.5188C>A MANE Select	NP_000042.3:p.Arg1730=
ENST00000675843.1:c.5188C>A MANE Select	ENSP00000501606.1:p.Arg1730=
NM_000051.3:c.5188C>A , LRG_135t1:c.5188C>A	NP_000042.3:p.Arg1730=
NM_001351834.1:c.5188C>A	NP_001338763.1:p.Arg1730=
NM_001351834.2:c.5188C>A	NP_001338763.1:p.Arg1730=
ENST00000278616.8:c.5188C>A	ENSP00000278616.4:p.Arg1730=
ENST00000278616.9:c.5188C>A	ENSP00000278616.4:p.Arg1730=
ENST00000452508.6:c.5188C>A	ENSP00000388058.2:p.Arg1730=
ENST00000452508.7:c.5188C>A	ENSP00000388058.2:p.Arg1730=
ENST00000524792.5:n.1403C>A
ENST00000527805.6:c.*252C>A	ENSP00000435747.2:n.*252C>A
ENST00000533690.5:n.592C>A
ENST00000534625.1:n.417C>A
ENST00000675595.1:c.*252C>A	ENSP00000502563.1:n.*252C>A
ENST00000683174.1:n.6672C>A
ENST00000683524.1:n.412C>A
ENST00000684152.1:n.902C>A
ENST00000713593.1:c.*4659C>A	ENSP00000518889.1:n.*4659C>A
XM_005271561.3:c.5188C>A	XP_005271618.2:p.Arg1730=
XM_005271562.3:c.5188C>A	XP_005271619.2:p.Arg1730=
XM_005271562.5:c.5188C>A	XP_005271619.2:p.Arg1730=
XM_006718843.2:c.5188C>A	XP_006718906.1:p.Arg1730=
XM_006718843.4:c.5188C>A	XP_006718906.1:p.Arg1730=
XM_006718845.1:c.1144C>A	XP_006718908.1:p.Arg382=
XM_006718845.2:c.1144C>A	XP_006718908.1:p.Arg382=
XM_011542840.1:c.5188C>A	XP_011541142.1:p.Arg1730=
XM_011542840.3:c.5188C>A	XP_011541142.1:p.Arg1730=
XM_011542841.1:c.5188C>A	XP_011541143.1:p.Arg1730=
XM_011542842.1:c.5023C>A	XP_011541144.1:p.Arg1675=
XM_011542842.3:c.5023C>A	XP_011541144.1:p.Arg1675=
XM_011542843.1:c.5188C>A	XP_011541145.1:p.Arg1730=
XM_011542843.2:c.5188C>A	XP_011541145.1:p.Arg1730=
XM_011542844.1:c.4144C>A	XP_011541146.1:p.Arg1382=
XM_011542844.3:c.4144C>A	XP_011541146.1:p.Arg1382=
XM_011542845.1:c.3880C>A	XP_011541147.1:p.Arg1294=
XM_011542845.2:c.3880C>A	XP_011541147.1:p.Arg1294=
XM_011542846.1:c.5188C>A	XP_011541148.1:p.Arg1730=
XM_011542847.1:c.259C>A	XP_011541149.1:p.Arg87=
XM_017017789.2:c.5188C>A	XP_016873278.1:p.Arg1730=
XM_017017790.2:c.5188C>A	XP_016873279.1:p.Arg1730=
XM_017017791.1:c.5188C>A	XP_016873280.1:p.Arg1730=
XM_017017792.2:c.5188C>A	XP_016873281.1:p.Arg1730=
XR_002957150.1:n.5788C>A