Canonical Allele Identifier: CA476744690

Gene: ATM

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.108244873C>A , CM000673.2:g.108244873C>A	GRCh38
NC_000011.9:g.108115600C>A , CM000673.1:g.108115600C>A	GRCh37
NC_000011.8:g.107620810C>A	NCBI36
NG_009830.1:g.27042C>A , LRG_135:g.27042C>A

Transcript Alleles

HGVS	Amino-acid Change
NM_000051.4:c.748C>A MANE Select	NP_000042.3:p.Arg250=
ENST00000675843.1:c.748C>A MANE Select	ENSP00000501606.1:p.Arg250=
NM_000051.3:c.748C>A , LRG_135t1:c.748C>A	NP_000042.3:p.Arg250=
NM_001351834.1:c.748C>A	NP_001338763.1:p.Arg250=
NM_001351834.2:c.748C>A	NP_001338763.1:p.Arg250=
ENST00000278616.8:c.748C>A	ENSP00000278616.4:p.Arg250=
ENST00000278616.9:c.748C>A	ENSP00000278616.4:p.Arg250=
ENST00000452508.6:c.748C>A	ENSP00000388058.2:p.Arg250=
ENST00000452508.7:c.748C>A	ENSP00000388058.2:p.Arg250=
ENST00000527805.5:c.748C>A	ENSP00000435747.1:p.Arg250=
ENST00000527805.6:c.748C>A	ENSP00000435747.2:p.Arg250=
ENST00000675595.1:c.583C>A	ENSP00000502563.1:p.Arg195=
ENST00000682430.1:n.847C>A
ENST00000682516.1:n.882C>A
ENST00000682956.1:n.882C>A
ENST00000683100.1:n.3095C>A
ENST00000683174.1:n.898C>A
ENST00000683605.1:n.243C>A
ENST00000684037.1:c.748C>A	ENSP00000508245.1:p.Arg250=
ENST00000684061.1:n.882C>A
ENST00000684179.1:n.717C>A
ENST00000713593.1:c.*219C>A	ENSP00000518889.1:n.*219C>A
XM_005271561.3:c.748C>A	XP_005271618.2:p.Arg250=
XM_005271562.3:c.748C>A	XP_005271619.2:p.Arg250=
XM_005271562.5:c.748C>A	XP_005271619.2:p.Arg250=
XM_006718843.2:c.748C>A	XP_006718906.1:p.Arg250=
XM_006718843.4:c.748C>A	XP_006718906.1:p.Arg250=
XM_011542840.1:c.748C>A	XP_011541142.1:p.Arg250=
XM_011542840.3:c.748C>A	XP_011541142.1:p.Arg250=
XM_011542841.1:c.748C>A	XP_011541143.1:p.Arg250=
XM_011542842.1:c.583C>A	XP_011541144.1:p.Arg195=
XM_011542842.3:c.583C>A	XP_011541144.1:p.Arg195=
XM_011542843.1:c.748C>A	XP_011541145.1:p.Arg250=
XM_011542843.2:c.748C>A	XP_011541145.1:p.Arg250=
XM_011542844.1:c.-297C>A	XP_011541146.1:n.-297C>A
XM_011542844.3:c.-297C>A	XP_011541146.1:n.-297C>A
XM_011542846.1:c.748C>A	XP_011541148.1:p.Arg250=
XM_017017789.2:c.748C>A	XP_016873278.1:p.Arg250=
XM_017017790.2:c.748C>A	XP_016873279.1:p.Arg250=
XM_017017791.1:c.748C>A	XP_016873280.1:p.Arg250=
XM_017017792.2:c.748C>A	XP_016873281.1:p.Arg250=
XR_002957150.1:n.1481C>A