Canonical Allele Identifier: CA157135
Gene: ATM HGNC NCBI

Linked Data

ClinVar Variation Id: 133623
dbSNP Id: rs1801673

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.108304736A>T , CM000673.2:g.108304736A>T GRCh38
NC_000011.9:g.108175463A>T , CM000673.1:g.108175463A>T GRCh37
NC_000011.8:g.107680673A>T NCBI36
NG_009830.1:g.86905A>T , LRG_135:g.86905A>T

Transcript Alleles

HGVS Amino-acid change
ENST00000527805.6:c.*622A>T ENSP00000435747.2:p.=
ENST00000675595.1:c.*622A>T ENSP00000502563.1:p.=
ENST00000675843.1:c.5558A>T MANE Select ENSP00000501606.1:p.Asp1853Val
ENST00000278616.8:c.5558A>T ENSP00000278616.4:p.Asp1853Val
ENST00000452508.6:c.5558A>T ENSP00000388058.2:p.Asp1853Val
ENST00000524792.5:n.1773A>T
ENST00000529588.5:n.70A>T
ENST00000533690.5:n.962A>T
NM_000051.3:c.5558A>T , LRG_135t1:c.5558A>T NP_000042.3:p.Asp1853Val
XM_005271561.3:c.5558A>T XP_005271618.2:p.Asp1853Val
XM_005271562.3:c.5558A>T XP_005271619.2:p.Asp1853Val
XM_006718843.2:c.5558A>T XP_006718906.1:p.Asp1853Val
XM_006718845.1:c.1514A>T XP_006718908.1:p.Asp505Val
XM_011542840.1:c.5558A>T XP_011541142.1:p.Asp1853Val
XM_011542841.1:c.5558A>T XP_011541143.1:p.Asp1853Val
XM_011542842.1:c.5393A>T XP_011541144.1:p.Asp1798Val
XM_011542843.1:c.5558A>T XP_011541145.1:p.Asp1853Val
XM_011542844.1:c.4514A>T XP_011541146.1:p.Asp1505Val
XM_011542845.1:c.4250A>T XP_011541147.1:p.Asp1417Val
XM_011542847.1:c.629A>T XP_011541149.1:p.Asp210Val
NM_001351834.1:c.5558A>T NP_001338763.1:p.Asp1853Val
XM_005271562.5:c.5558A>T XP_005271619.2:p.Asp1853Val
XM_006718843.4:c.5558A>T XP_006718906.1:p.Asp1853Val
XM_006718845.2:c.1514A>T XP_006718908.1:p.Asp505Val
XM_011542840.3:c.5558A>T XP_011541142.1:p.Asp1853Val
XM_011542842.3:c.5393A>T XP_011541144.1:p.Asp1798Val
XM_011542843.2:c.5558A>T XP_011541145.1:p.Asp1853Val
XM_011542844.3:c.4514A>T XP_011541146.1:p.Asp1505Val
XM_011542845.2:c.4250A>T XP_011541147.1:p.Asp1417Val
XM_017017789.2:c.5558A>T XP_016873278.1:p.Asp1853Val
XM_017017790.2:c.5558A>T XP_016873279.1:p.Asp1853Val
XM_017017791.1:c.5558A>T XP_016873280.1:p.Asp1853Val
XR_002957150.1:n.6158A>T
NM_001351834.2:c.5558A>T NP_001338763.1:p.Asp1853Val
NM_000051.4:c.5558A>T MANE Select NP_000042.3:p.Asp1853Val