Canonical Allele Identifier: CA476674959

Gene: ATM

Linked Data

• dbSNP Id: rs2135929198
• MyVariant Identifiers: chr11:g.108173672T>A (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.108302945T>A , CM000673.2:g.108302945T>A	GRCh38
NC_000011.9:g.108173672T>A , CM000673.1:g.108173672T>A	GRCh37
NC_000011.8:g.107678882T>A	NCBI36
NG_009830.1:g.85114T>A , LRG_135:g.85114T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000452508.7:c.5412T>A	ENSP00000388058.2:p.Ile1804=
ENST00000713593.1:c.*4883T>A	ENSP00000518889.1:n.*4883T>A
ENST00000278616.9:c.5412T>A	ENSP00000278616.4:p.Ile1804=
ENST00000683174.1:n.6896T>A
ENST00000683524.1:n.636T>A
ENST00000684152.1:n.1126T>A
ENST00000527805.6:c.*476T>A	ENSP00000435747.2:n.*476T>A
ENST00000675595.1:c.*476T>A	ENSP00000502563.1:n.*476T>A
ENST00000675843.1:c.5412T>A MANE Select	ENSP00000501606.1:p.Ile1804=
ENST00000278616.8:c.5412T>A	ENSP00000278616.4:p.Ile1804=
ENST00000452508.6:c.5412T>A	ENSP00000388058.2:p.Ile1804=
ENST00000524792.5:n.1627T>A
ENST00000533690.5:n.816T>A
ENST00000534625.1:n.641T>A
NM_000051.3:c.5412T>A , LRG_135t1:c.5412T>A	NP_000042.3:p.Ile1804=
XM_005271561.3:c.5412T>A	XP_005271618.2:p.Ile1804=
XM_005271562.3:c.5412T>A	XP_005271619.2:p.Ile1804=
XM_006718843.2:c.5412T>A	XP_006718906.1:p.Ile1804=
XM_006718845.1:c.1368T>A	XP_006718908.1:p.Ile456=
XM_011542840.1:c.5412T>A	XP_011541142.1:p.Ile1804=
XM_011542841.1:c.5412T>A	XP_011541143.1:p.Ile1804=
XM_011542842.1:c.5247T>A	XP_011541144.1:p.Ile1749=
XM_011542843.1:c.5412T>A	XP_011541145.1:p.Ile1804=
XM_011542844.1:c.4368T>A	XP_011541146.1:p.Ile1456=
XM_011542845.1:c.4104T>A	XP_011541147.1:p.Ile1368=
XM_011542846.1:c.*70T>A	XP_011541148.1:n.*70T>A
XM_011542847.1:c.483T>A	XP_011541149.1:p.Ile161=
NM_001351834.1:c.5412T>A	NP_001338763.1:p.Ile1804=
XM_005271562.5:c.5412T>A	XP_005271619.2:p.Ile1804=
XM_006718843.4:c.5412T>A	XP_006718906.1:p.Ile1804=
XM_006718845.2:c.1368T>A	XP_006718908.1:p.Ile456=
XM_011542840.3:c.5412T>A	XP_011541142.1:p.Ile1804=
XM_011542842.3:c.5247T>A	XP_011541144.1:p.Ile1749=
XM_011542843.2:c.5412T>A	XP_011541145.1:p.Ile1804=
XM_011542844.3:c.4368T>A	XP_011541146.1:p.Ile1456=
XM_011542845.2:c.4104T>A	XP_011541147.1:p.Ile1368=
XM_017017789.2:c.5412T>A	XP_016873278.1:p.Ile1804=
XM_017017790.2:c.5412T>A	XP_016873279.1:p.Ile1804=
XM_017017791.1:c.5412T>A	XP_016873280.1:p.Ile1804=
XR_002957150.1:n.6012T>A
NM_001351834.2:c.5412T>A	NP_001338763.1:p.Ile1804=
NM_000051.4:c.5412T>A MANE Select	NP_000042.3:p.Ile1804=