Canonical Allele Identifier: CA6265557

Gene: ATM

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.108294934A>G , CM000673.2:g.108294934A>G	GRCh38
NC_000011.9:g.108165661A>G , CM000673.1:g.108165661A>G	GRCh37
NC_000011.8:g.107670871A>G	NCBI36
NG_009830.1:g.77103A>G , LRG_135:g.77103A>G

Transcript Alleles

HGVS	Amino-acid Change
NM_000051.4:c.4784A>G MANE Select	NP_000042.3:p.Asn1595Ser
ENST00000675843.1:c.4784A>G MANE Select	ENSP00000501606.1:p.Asn1595Ser
NM_000051.3:c.4784A>G , LRG_135t1:c.4784A>G	NP_000042.3:p.Asn1595Ser
NM_001351834.1:c.4784A>G	NP_001338763.1:p.Asn1595Ser
NM_001351834.2:c.4784A>G	NP_001338763.1:p.Asn1595Ser
ENST00000278616.8:c.4784A>G	ENSP00000278616.4:p.Asn1595Ser
ENST00000278616.9:c.4784A>G	ENSP00000278616.4:p.Asn1595Ser
ENST00000452508.6:c.4784A>G	ENSP00000388058.2:p.Asn1595Ser
ENST00000452508.7:c.4784A>G	ENSP00000388058.2:p.Asn1595Ser
ENST00000524792.5:n.999A>G
ENST00000527805.6:c.4611+2141A>G	ENSP00000435747.2:n.4611+2141A>G
ENST00000531525.2:c.451A>G	ENSP00000434327.2:p.Thr151Ala
ENST00000531957.1:n.101A>G
ENST00000675595.1:c.4611+1457A>G	ENSP00000502563.1:n.4611+1457A>G
ENST00000683174.1:n.4934A>G
ENST00000683524.1:n.133+1457A>G
ENST00000713593.1:c.*4255A>G	ENSP00000518889.1:n.*4255A>G
XM_005271561.3:c.4784A>G	XP_005271618.2:p.Asn1595Ser
XM_005271562.3:c.4784A>G	XP_005271619.2:p.Asn1595Ser
XM_005271562.5:c.4784A>G	XP_005271619.2:p.Asn1595Ser
XM_006718843.2:c.4784A>G	XP_006718906.1:p.Asn1595Ser
XM_006718843.4:c.4784A>G	XP_006718906.1:p.Asn1595Ser
XM_006718845.1:c.740A>G	XP_006718908.1:p.Asn247Ser
XM_006718845.2:c.740A>G	XP_006718908.1:p.Asn247Ser
XM_011542840.1:c.4784A>G	XP_011541142.1:p.Asn1595Ser
XM_011542840.3:c.4784A>G	XP_011541142.1:p.Asn1595Ser
XM_011542841.1:c.4784A>G	XP_011541143.1:p.Asn1595Ser
XM_011542842.1:c.4619A>G	XP_011541144.1:p.Asn1540Ser
XM_011542842.3:c.4619A>G	XP_011541144.1:p.Asn1540Ser
XM_011542843.1:c.4784A>G	XP_011541145.1:p.Asn1595Ser
XM_011542843.2:c.4784A>G	XP_011541145.1:p.Asn1595Ser
XM_011542844.1:c.3740A>G	XP_011541146.1:p.Asn1247Ser
XM_011542844.3:c.3740A>G	XP_011541146.1:p.Asn1247Ser
XM_011542845.1:c.3476A>G	XP_011541147.1:p.Asn1159Ser
XM_011542845.2:c.3476A>G	XP_011541147.1:p.Asn1159Ser
XM_011542846.1:c.4784A>G	XP_011541148.1:p.Asn1595Ser
XM_017017789.2:c.4784A>G	XP_016873278.1:p.Asn1595Ser
XM_017017790.2:c.4784A>G	XP_016873279.1:p.Asn1595Ser
XM_017017791.1:c.4784A>G	XP_016873280.1:p.Asn1595Ser
XM_017017792.2:c.4784A>G	XP_016873281.1:p.Asn1595Ser
XR_002957150.1:n.5509+1457A>G