Canonical Allele Identifier: CA2530004631
Gene: ATM HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.108223032G>C , CM000673.2:g.108223032G>C GRCh38
NC_000011.9:g.108093759G>C , CM000673.1:g.108093759G>C GRCh37
NC_000011.8:g.107598969G>C NCBI36
NG_009830.1:g.5201G>C , LRG_135:g.5201G>C

Transcript Alleles

HGVS Amino-acid change
ENST00000452508.7:c.-273G>C ENSP00000388058.2:n.-273G>C
ENST00000683914.2:c.-185G>C ENSP00000507649.1:n.-185G>C
ENST00000278616.8:c.-185G>C ENSP00000278616.4:n.-185G>C
ENST00000527805.5:c.-185G>C ENSP00000435747.1:n.-185G>C
NM_000051.3:c.-185G>C , LRG_135t1:c.-185G>C NP_000042.3:n.-185G>C
XM_011542843.1:c.-185G>C XP_011541145.1:n.-185G>C
XM_011542846.1:c.-185G>C XP_011541148.1:n.-185G>C
NM_001351834.1:c.-273G>C NP_001338763.1:n.-273G>C
NM_001351835.1:c.-185G>C NP_001338764.1:n.-185G>C
XM_011542842.3:c.-185G>C XP_011541144.1:n.-185G>C
XM_011542843.2:c.-185G>C XP_011541145.1:n.-185G>C
XM_011542844.3:c.-1207G>C XP_011541146.1:n.-1207G>C
XM_017017791.1:c.-185G>C XP_016873280.1:n.-185G>C
XM_017017792.2:c.-185G>C XP_016873281.1:n.-185G>C
XR_002957150.1:n.549G>C