Canonical Allele Identifier: CA2725094878
Gene: ATM HGNC NCBI

Linked Data

dbSNP Id: rs2134935173

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.108222932C>G , CM000673.2:g.108222932C>G GRCh38
NC_000011.9:g.108093659C>G , CM000673.1:g.108093659C>G GRCh37
NC_000011.8:g.107598869C>G NCBI36
NG_009830.1:g.5101C>G , LRG_135:g.5101C>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000452508.7:c.-373C>G ENSP00000388058.2:n.-373C>G
ENST00000683914.2:c.-285C>G ENSP00000507649.1:n.-285C>G
ENST00000278616.8:c.-285C>G ENSP00000278616.4:n.-285C>G
ENST00000527805.5:c.-285C>G ENSP00000435747.1:n.-285C>G
NM_000051.3:c.-285C>G , LRG_135t1:c.-285C>G NP_000042.3:n.-285C>G
XM_011542843.1:c.-285C>G XP_011541145.1:n.-285C>G
XM_011542846.1:c.-285C>G XP_011541148.1:n.-285C>G
NM_001351834.1:c.-373C>G NP_001338763.1:n.-373C>G
NM_001351835.1:c.-285C>G NP_001338764.1:n.-285C>G
XM_011542842.3:c.-285C>G XP_011541144.1:n.-285C>G
XM_011542843.2:c.-285C>G XP_011541145.1:n.-285C>G
XM_011542844.3:c.-1307C>G XP_011541146.1:n.-1307C>G
XM_017017791.1:c.-285C>G XP_016873280.1:n.-285C>G
XM_017017792.2:c.-285C>G XP_016873281.1:n.-285C>G
XR_002957150.1:n.449C>G