Canonical Allele Identifier: CA1998758120
Gene: ATM HGNC NCBI

Linked Data

dbSNP Id: rs2078571313

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.108223152G>T , CM000673.2:g.108223152G>T GRCh38
NC_000011.9:g.108093879G>T , CM000673.1:g.108093879G>T GRCh37
NC_000011.8:g.107599089G>T NCBI36
NG_009830.1:g.5321G>T , LRG_135:g.5321G>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000452508.7:c.-153G>T ENSP00000388058.2:n.-153G>T
ENST00000683914.2:c.-65G>T ENSP00000507649.1:n.-65G>T
ENST00000713593.1:c.-65G>T ENSP00000518889.1:n.-65G>T
ENST00000683150.1:c.-216G>T ENSP00000507125.1:n.-216G>T
ENST00000683174.1:n.86G>T
ENST00000683468.1:c.-4473G>T ENSP00000508178.1:n.-4473G>T
ENST00000683488.1:n.109G>T
ENST00000683914.1:c.-65G>T ENSP00000507649.1:n.-65G>T
ENST00000527805.6:c.-65G>T ENSP00000435747.2:n.-65G>T
ENST00000675595.1:c.-65G>T ENSP00000502563.1:n.-65G>T
ENST00000675843.1:c.-65G>T MANE Select ENSP00000501606.1:n.-65G>T
ENST00000278616.8:c.-65G>T ENSP00000278616.4:n.-65G>T
ENST00000452508.6:c.-153G>T ENSP00000388058.2:n.-153G>T
ENST00000527805.5:c.-65G>T ENSP00000435747.1:n.-65G>T
ENST00000527891.5:c.-65G>T ENSP00000433955.1:n.-65G>T
ENST00000530958.5:c.-4473G>T ENSP00000483338.1:n.-4473G>T
ENST00000532931.5:c.-139G>T ENSP00000432318.1:n.-139G>T
NM_000051.3:c.-65G>T , LRG_135t1:c.-65G>T NP_000042.3:n.-65G>T
XM_005271561.3:c.-153G>T XP_005271618.2:n.-153G>T
XM_011542841.1:c.-856G>T XP_011541143.1:n.-856G>T
XM_011542842.1:c.-65G>T XP_011541144.1:n.-65G>T
XM_011542843.1:c.-65G>T XP_011541145.1:n.-65G>T
XM_011542846.1:c.-65G>T XP_011541148.1:n.-65G>T
NM_001351834.1:c.-153G>T NP_001338763.1:n.-153G>T
NM_001351835.1:c.-65G>T NP_001338764.1:n.-65G>T
XM_011542842.3:c.-65G>T XP_011541144.1:n.-65G>T
XM_011542843.2:c.-65G>T XP_011541145.1:n.-65G>T
XM_011542844.3:c.-1087G>T XP_011541146.1:n.-1087G>T
XM_017017791.1:c.-65G>T XP_016873280.1:n.-65G>T
XM_017017792.2:c.-65G>T XP_016873281.1:n.-65G>T
XR_002957150.1:n.669G>T
NM_001351834.2:c.-153G>T NP_001338763.1:n.-153G>T
NM_000051.4:c.-65G>T MANE Select NP_000042.3:n.-65G>T
NM_001351835.2:c.-65G>T NP_001338764.1:n.-65G>T