Canonical Allele Identifier: CA382543775

Gene: ATM

Linked Data

• gnomAD v4: 11-108302939-T-G
• MyVariant Identifiers: chr11:g.108173666T>G (hg19) ; chr11:g.108302939T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.108302939T>G , CM000673.2:g.108302939T>G	GRCh38
NC_000011.9:g.108173666T>G , CM000673.1:g.108173666T>G	GRCh37
NC_000011.8:g.107678876T>G	NCBI36
NG_009830.1:g.85108T>G , LRG_135:g.85108T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000452508.7:c.5406T>G	ENSP00000388058.2:p.His1802Gln
ENST00000713593.1:c.*4877T>G	ENSP00000518889.1:n.*4877T>G
ENST00000278616.9:c.5406T>G	ENSP00000278616.4:p.His1802Gln
ENST00000683174.1:n.6890T>G
ENST00000683524.1:n.630T>G
ENST00000684152.1:n.1120T>G
ENST00000527805.6:c.*470T>G	ENSP00000435747.2:n.*470T>G
ENST00000675595.1:c.*470T>G	ENSP00000502563.1:n.*470T>G
ENST00000675843.1:c.5406T>G MANE Select	ENSP00000501606.1:p.His1802Gln
ENST00000278616.8:c.5406T>G	ENSP00000278616.4:p.His1802Gln
ENST00000452508.6:c.5406T>G	ENSP00000388058.2:p.His1802Gln
ENST00000524792.5:n.1621T>G
ENST00000533690.5:n.810T>G
ENST00000534625.1:n.635T>G
NM_000051.3:c.5406T>G , LRG_135t1:c.5406T>G	NP_000042.3:p.His1802Gln
XM_005271561.3:c.5406T>G	XP_005271618.2:p.His1802Gln
XM_005271562.3:c.5406T>G	XP_005271619.2:p.His1802Gln
XM_006718843.2:c.5406T>G	XP_006718906.1:p.His1802Gln
XM_006718845.1:c.1362T>G	XP_006718908.1:p.His454Gln
XM_011542840.1:c.5406T>G	XP_011541142.1:p.His1802Gln
XM_011542841.1:c.5406T>G	XP_011541143.1:p.His1802Gln
XM_011542842.1:c.5241T>G	XP_011541144.1:p.His1747Gln
XM_011542843.1:c.5406T>G	XP_011541145.1:p.His1802Gln
XM_011542844.1:c.4362T>G	XP_011541146.1:p.His1454Gln
XM_011542845.1:c.4098T>G	XP_011541147.1:p.His1366Gln
XM_011542846.1:c.*64T>G	XP_011541148.1:n.*64T>G
XM_011542847.1:c.477T>G	XP_011541149.1:p.His159Gln
NM_001351834.1:c.5406T>G	NP_001338763.1:p.His1802Gln
XM_005271562.5:c.5406T>G	XP_005271619.2:p.His1802Gln
XM_006718843.4:c.5406T>G	XP_006718906.1:p.His1802Gln
XM_006718845.2:c.1362T>G	XP_006718908.1:p.His454Gln
XM_011542840.3:c.5406T>G	XP_011541142.1:p.His1802Gln
XM_011542842.3:c.5241T>G	XP_011541144.1:p.His1747Gln
XM_011542843.2:c.5406T>G	XP_011541145.1:p.His1802Gln
XM_011542844.3:c.4362T>G	XP_011541146.1:p.His1454Gln
XM_011542845.2:c.4098T>G	XP_011541147.1:p.His1366Gln
XM_017017789.2:c.5406T>G	XP_016873278.1:p.His1802Gln
XM_017017790.2:c.5406T>G	XP_016873279.1:p.His1802Gln
XM_017017791.1:c.5406T>G	XP_016873280.1:p.His1802Gln
XR_002957150.1:n.6006T>G
NM_001351834.2:c.5406T>G	NP_001338763.1:p.His1802Gln
NM_000051.4:c.5406T>G MANE Select	NP_000042.3:p.His1802Gln