Canonical Allele Identifier: CA348479
Gene: ATM HGNC NCBI

Linked Data

ClinVar Variation Id: 220453
dbSNP Id: rs142317485

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.108247008T>C , CM000673.2:g.108247008T>C GRCh38
NC_000011.9:g.108117735T>C , CM000673.1:g.108117735T>C GRCh37
NC_000011.8:g.107622945T>C NCBI36
NG_009830.1:g.29177T>C , LRG_135:g.29177T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000452508.7:c.946T>C ENSP00000388058.2:p.Tyr316His
ENST00000713593.1:c.*417T>C ENSP00000518889.1:n.*417T>C
ENST00000278616.9:c.946T>C ENSP00000278616.4:p.Tyr316His
ENST00000682516.1:n.1080T>C
ENST00000682956.1:n.1080T>C
ENST00000683100.1:n.3293T>C
ENST00000683174.1:n.1096T>C
ENST00000683605.1:n.441T>C
ENST00000684037.1:c.946T>C ENSP00000508245.1:p.Tyr316His
ENST00000684061.1:n.1080T>C
ENST00000684179.1:n.915T>C
ENST00000527805.6:c.946T>C ENSP00000435747.2:p.Tyr316His
ENST00000675595.1:c.781T>C ENSP00000502563.1:p.Tyr261His
ENST00000675843.1:c.946T>C MANE Select ENSP00000501606.1:p.Tyr316His
ENST00000278616.8:c.946T>C ENSP00000278616.4:p.Tyr316His
ENST00000452508.6:c.946T>C ENSP00000388058.2:p.Tyr316His
ENST00000527805.5:c.946T>C ENSP00000435747.1:p.Tyr316His
NM_000051.3:c.946T>C , LRG_135t1:c.946T>C NP_000042.3:p.Tyr316His
XM_005271561.3:c.946T>C XP_005271618.2:p.Tyr316His
XM_005271562.3:c.946T>C XP_005271619.2:p.Tyr316His
XM_006718843.2:c.946T>C XP_006718906.1:p.Tyr316His
XM_011542840.1:c.946T>C XP_011541142.1:p.Tyr316His
XM_011542841.1:c.946T>C XP_011541143.1:p.Tyr316His
XM_011542842.1:c.781T>C XP_011541144.1:p.Tyr261His
XM_011542843.1:c.946T>C XP_011541145.1:p.Tyr316His
XM_011542844.1:c.-99T>C XP_011541146.1:n.-99T>C
XM_011542846.1:c.946T>C XP_011541148.1:p.Tyr316His
NM_001351834.1:c.946T>C NP_001338763.1:p.Tyr316His
XM_005271562.5:c.946T>C XP_005271619.2:p.Tyr316His
XM_006718843.4:c.946T>C XP_006718906.1:p.Tyr316His
XM_011542840.3:c.946T>C XP_011541142.1:p.Tyr316His
XM_011542842.3:c.781T>C XP_011541144.1:p.Tyr261His
XM_011542843.2:c.946T>C XP_011541145.1:p.Tyr316His
XM_011542844.3:c.-99T>C XP_011541146.1:n.-99T>C
XM_017017789.2:c.946T>C XP_016873278.1:p.Tyr316His
XM_017017790.2:c.946T>C XP_016873279.1:p.Tyr316His
XM_017017791.1:c.946T>C XP_016873280.1:p.Tyr316His
XM_017017792.2:c.946T>C XP_016873281.1:p.Tyr316His
XR_002957150.1:n.1679T>C
NM_001351834.2:c.946T>C NP_001338763.1:p.Tyr316His
NM_000051.4:c.946T>C MANE Select NP_000042.3:p.Tyr316His