Canonical Allele Identifier: CA602132747
Gene: ATM HGNC NCBI

Linked Data

dbSNP Id: rs1484011984

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.108284197A>C , CM000673.2:g.108284197A>C GRCh38
NC_000011.9:g.108154924A>C , CM000673.1:g.108154924A>C GRCh37
NC_000011.8:g.107660134A>C NCBI36
NG_009830.1:g.66366A>C , LRG_135:g.66366A>C

Transcript Alleles

HGVS Amino-acid change
ENST00000452508.7:c.3747-30A>C ENSP00000388058.2:n.3747-30A>C
ENST00000713593.1:c.*3218-30A>C ENSP00000518889.1:n.*3218-30A>C
ENST00000278616.9:c.3747-30A>C ENSP00000278616.4:n.3747-30A>C
ENST00000682289.1:n.94-30A>C
ENST00000683174.1:n.3897-30A>C
ENST00000527805.6:c.3747-30A>C ENSP00000435747.2:n.3747-30A>C
ENST00000675595.1:c.3582-30A>C ENSP00000502563.1:n.3582-30A>C
ENST00000675843.1:c.3747-30A>C MANE Select ENSP00000501606.1:n.3747-30A>C
ENST00000278616.8:c.3747-30A>C ENSP00000278616.4:n.3747-30A>C
ENST00000452508.6:c.3747-30A>C ENSP00000388058.2:n.3747-30A>C
ENST00000527805.5:c.3747-30A>C ENSP00000435747.1:n.3747-30A>C
NM_000051.3:c.3747-30A>C , LRG_135t1:c.3747-30A>C NP_000042.3:n.3747-30A>C
XM_005271561.3:c.3747-30A>C XP_005271618.2:n.3747-30A>C
XM_005271562.3:c.3747-30A>C XP_005271619.2:n.3747-30A>C
XM_006718843.2:c.3747-30A>C XP_006718906.1:n.3747-30A>C
XM_011542840.1:c.3747-30A>C XP_011541142.1:n.3747-30A>C
XM_011542841.1:c.3747-30A>C XP_011541143.1:n.3747-30A>C
XM_011542842.1:c.3582-30A>C XP_011541144.1:n.3582-30A>C
XM_011542843.1:c.3747-30A>C XP_011541145.1:n.3747-30A>C
XM_011542844.1:c.2703-30A>C XP_011541146.1:n.2703-30A>C
XM_011542845.1:c.2439-30A>C XP_011541147.1:n.2439-30A>C
XM_011542846.1:c.3747-30A>C XP_011541148.1:n.3747-30A>C
NM_001351834.1:c.3747-30A>C NP_001338763.1:n.3747-30A>C
XM_005271562.5:c.3747-30A>C XP_005271619.2:n.3747-30A>C
XM_006718843.4:c.3747-30A>C XP_006718906.1:n.3747-30A>C
XM_011542840.3:c.3747-30A>C XP_011541142.1:n.3747-30A>C
XM_011542842.3:c.3582-30A>C XP_011541144.1:n.3582-30A>C
XM_011542843.2:c.3747-30A>C XP_011541145.1:n.3747-30A>C
XM_011542844.3:c.2703-30A>C XP_011541146.1:n.2703-30A>C
XM_011542845.2:c.2439-30A>C XP_011541147.1:n.2439-30A>C
XM_017017789.2:c.3747-30A>C XP_016873278.1:n.3747-30A>C
XM_017017790.2:c.3747-30A>C XP_016873279.1:n.3747-30A>C
XM_017017791.1:c.3747-30A>C XP_016873280.1:n.3747-30A>C
XM_017017792.2:c.3747-30A>C XP_016873281.1:n.3747-30A>C
XR_002957150.1:n.4480-30A>C
NM_001351834.2:c.3747-30A>C NP_001338763.1:n.3747-30A>C
NM_000051.4:c.3747-30A>C MANE Select NP_000042.3:n.3747-30A>C