Canonical Allele Identifier: CA6265056
Gene: ATM HGNC NCBI

Linked Data

ClinVar Variation Id: 479088
dbSNP Id: rs587781808

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.108267235G>C , CM000673.2:g.108267235G>C GRCh38
NC_000011.9:g.108137962G>C , CM000673.1:g.108137962G>C GRCh37
NC_000011.8:g.107643172G>C NCBI36
NG_009830.1:g.49404G>C , LRG_135:g.49404G>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000452508.7:c.2531G>C ENSP00000388058.2:p.Gly844Ala
ENST00000713593.1:c.*2002G>C ENSP00000518889.1:n.*2002G>C
ENST00000278616.9:c.2531G>C ENSP00000278616.4:p.Gly844Ala
ENST00000682516.1:n.2665G>C
ENST00000683174.1:n.2681G>C
ENST00000683605.1:n.2026G>C
ENST00000684037.1:c.*1466G>C ENSP00000508245.1:n.*1466G>C
ENST00000527805.6:c.2531G>C ENSP00000435747.2:p.Gly844Ala
ENST00000675595.1:c.2366G>C ENSP00000502563.1:p.Gly789Ala
ENST00000675843.1:c.2531G>C MANE Select ENSP00000501606.1:p.Gly844Ala
ENST00000278616.8:c.2531G>C ENSP00000278616.4:p.Gly844Ala
ENST00000452508.6:c.2531G>C ENSP00000388058.2:p.Gly844Ala
ENST00000527805.5:c.2531G>C ENSP00000435747.1:p.Gly844Ala
NM_000051.3:c.2531G>C , LRG_135t1:c.2531G>C NP_000042.3:p.Gly844Ala
XM_005271561.3:c.2531G>C XP_005271618.2:p.Gly844Ala
XM_005271562.3:c.2531G>C XP_005271619.2:p.Gly844Ala
XM_006718843.2:c.2531G>C XP_006718906.1:p.Gly844Ala
XM_011542840.1:c.2531G>C XP_011541142.1:p.Gly844Ala
XM_011542841.1:c.2531G>C XP_011541143.1:p.Gly844Ala
XM_011542842.1:c.2366G>C XP_011541144.1:p.Gly789Ala
XM_011542843.1:c.2531G>C XP_011541145.1:p.Gly844Ala
XM_011542844.1:c.1487G>C XP_011541146.1:p.Gly496Ala
XM_011542845.1:c.1223G>C XP_011541147.1:p.Gly408Ala
XM_011542846.1:c.2531G>C XP_011541148.1:p.Gly844Ala
NM_001351834.1:c.2531G>C NP_001338763.1:p.Gly844Ala
XM_005271562.5:c.2531G>C XP_005271619.2:p.Gly844Ala
XM_006718843.4:c.2531G>C XP_006718906.1:p.Gly844Ala
XM_011542840.3:c.2531G>C XP_011541142.1:p.Gly844Ala
XM_011542842.3:c.2366G>C XP_011541144.1:p.Gly789Ala
XM_011542843.2:c.2531G>C XP_011541145.1:p.Gly844Ala
XM_011542844.3:c.1487G>C XP_011541146.1:p.Gly496Ala
XM_011542845.2:c.1223G>C XP_011541147.1:p.Gly408Ala
XM_017017789.2:c.2531G>C XP_016873278.1:p.Gly844Ala
XM_017017790.2:c.2531G>C XP_016873279.1:p.Gly844Ala
XM_017017791.1:c.2531G>C XP_016873280.1:p.Gly844Ala
XM_017017792.2:c.2531G>C XP_016873281.1:p.Gly844Ala
XR_002957150.1:n.3264G>C
NM_001351834.2:c.2531G>C NP_001338763.1:p.Gly844Ala
NM_000051.4:c.2531G>C MANE Select NP_000042.3:p.Gly844Ala