Canonical Allele Identifier: CA1998758125
Gene: ATM HGNC NCBI

Linked Data

dbSNP Id: rs951064054

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.108223159A>G , CM000673.2:g.108223159A>G GRCh38
NC_000011.9:g.108093886A>G , CM000673.1:g.108093886A>G GRCh37
NC_000011.8:g.107599096A>G NCBI36
NG_009830.1:g.5328A>G , LRG_135:g.5328A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000452508.7:c.-146A>G ENSP00000388058.2:n.-146A>G
ENST00000683914.2:c.-58A>G ENSP00000507649.1:n.-58A>G
ENST00000713593.1:c.-58A>G ENSP00000518889.1:n.-58A>G
ENST00000683150.1:c.-209A>G ENSP00000507125.1:n.-209A>G
ENST00000683174.1:n.93A>G
ENST00000683468.1:c.-4466A>G ENSP00000508178.1:n.-4466A>G
ENST00000683488.1:n.116A>G
ENST00000683914.1:c.-58A>G ENSP00000507649.1:n.-58A>G
ENST00000527805.6:c.-58A>G ENSP00000435747.2:n.-58A>G
ENST00000675595.1:c.-58A>G ENSP00000502563.1:n.-58A>G
ENST00000675843.1:c.-58A>G MANE Select ENSP00000501606.1:n.-58A>G
ENST00000278616.8:c.-58A>G ENSP00000278616.4:n.-58A>G
ENST00000452508.6:c.-146A>G ENSP00000388058.2:n.-146A>G
ENST00000527805.5:c.-58A>G ENSP00000435747.1:n.-58A>G
ENST00000527891.5:c.-58A>G ENSP00000433955.1:n.-58A>G
ENST00000530958.5:c.-4466A>G ENSP00000483338.1:n.-4466A>G
ENST00000532931.5:c.-132A>G ENSP00000432318.1:n.-132A>G
NM_000051.3:c.-58A>G , LRG_135t1:c.-58A>G NP_000042.3:n.-58A>G
XM_005271561.3:c.-146A>G XP_005271618.2:n.-146A>G
XM_011542841.1:c.-849A>G XP_011541143.1:n.-849A>G
XM_011542842.1:c.-58A>G XP_011541144.1:n.-58A>G
XM_011542843.1:c.-58A>G XP_011541145.1:n.-58A>G
XM_011542846.1:c.-58A>G XP_011541148.1:n.-58A>G
NM_001351834.1:c.-146A>G NP_001338763.1:n.-146A>G
NM_001351835.1:c.-58A>G NP_001338764.1:n.-58A>G
XM_011542842.3:c.-58A>G XP_011541144.1:n.-58A>G
XM_011542843.2:c.-58A>G XP_011541145.1:n.-58A>G
XM_011542844.3:c.-1080A>G XP_011541146.1:n.-1080A>G
XM_017017791.1:c.-58A>G XP_016873280.1:n.-58A>G
XM_017017792.2:c.-58A>G XP_016873281.1:n.-58A>G
XR_002957150.1:n.676A>G
NM_001351834.2:c.-146A>G NP_001338763.1:n.-146A>G
NM_000051.4:c.-58A>G MANE Select NP_000042.3:n.-58A>G
NM_001351835.2:c.-58A>G NP_001338764.1:n.-58A>G