Linked Data
ClinVar Variation Id:
489565
dbSNP Id:
rs56046250
ExAC:
11:108183213 A / T
gnomAD v2:
11-108183213-A-T
gnomAD v4:
11-108312486-A-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.108312486A>T , CM000673.2:g.108312486A>T | GRCh38 |
| NC_000011.9:g.108183213A>T , CM000673.1:g.108183213A>T | GRCh37 |
| NC_000011.8:g.107688423A>T | NCBI36 |
| NG_009830.1:g.94655A>T , LRG_135:g.94655A>T | |
| NG_054724.1:g.162347T>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000452508.7:c.5994A>T (ATM) | ENSP00000388058.2:p.Gly1998= | |
| ENST00000713593.1:c.*5465A>T (ATM) | ENSP00000518889.1:n.*5465A>T | |
| ENST00000278616.9:c.5994A>T (ATM) | ENSP00000278616.4:p.Gly1998= | |
| ENST00000525056.2:n.413A>T (ATM) | ||
| ENST00000682286.1:n.751A>T (ATM) | ||
| ENST00000682302.1:n.412A>T (ATM) | ||
| ENST00000683174.1:n.7478A>T (ATM) | ||
| ENST00000683524.1:n.1218A>T (ATM) | ||
| ENST00000684152.1:n.1708A>T (ATM) | ||
| ENST00000527805.6:c.*1058A>T (ATM) | ENSP00000435747.2:n.*1058A>T | |
| ENST00000675595.1:c.*1058A>T (ATM) | ENSP00000502563.1:n.*1058A>T | |
| ENST00000675843.1:c.5994A>T (ATM) MANE Select | ENSP00000501606.1:p.Gly1998= | |
| ENST00000278616.8:c.5994A>T (ATM) | ENSP00000278616.4:p.Gly1998= | |
| ENST00000452508.6:c.5994A>T (ATM) | ENSP00000388058.2:p.Gly1998= | |
| ENST00000524792.5:n.2209A>T (ATM) | ||
| ENST00000525729.5:c.641-3415T>A (C11orf65) | ENSP00000433395.1:n.641-3415T>A | |
| ENST00000529588.5:c.418A>T (ATM) | ||
| ENST00000532765.1:n.311A>T (ATM) | ||
| ENST00000533690.5:n.1398A>T (ATM) | ||
| NM_000051.3:c.5994A>T , LRG_135t1:c.5994A>T (ATM) | NP_000042.3:p.Gly1998= | |
| XM_005271561.3:c.5994A>T (ATM) | XP_005271618.2:p.Gly1998= | |
| XM_005271562.3:c.5994A>T (ATM) | XP_005271619.2:p.Gly1998= | |
| XM_006718843.2:c.5994A>T (ATM) | XP_006718906.1:p.Gly1998= | |
| XM_006718845.1:c.1950A>T (ATM) | XP_006718908.1:p.Gly650= | |
| XM_011542840.1:c.5994A>T (ATM) | XP_011541142.1:p.Gly1998= | |
| XM_011542841.1:c.5994A>T (ATM) | XP_011541143.1:p.Gly1998= | |
| XM_011542842.1:c.5829A>T (ATM) | XP_011541144.1:p.Gly1943= | |
| XM_011542843.1:c.5994A>T (ATM) | XP_011541145.1:p.Gly1998= | |
| XM_011542844.1:c.4950A>T (ATM) | XP_011541146.1:p.Gly1650= | |
| XM_011542845.1:c.4686A>T (ATM) | XP_011541147.1:p.Gly1562= | |
| XM_011542847.1:c.1065A>T (ATM) | XP_011541149.1:p.Gly355= | |
| NM_001330368.1:c.641-3415T>A (C11orf65) | NP_001317297.1:n.641-3415T>A | |
| NM_001351110.1:c.*39-3415T>A (C11orf65) | NP_001338039.1:n.*39-3415T>A | |
| NM_001351834.1:c.5994A>T (ATM) | NP_001338763.1:p.Gly1998= | |
| XM_005271562.5:c.5994A>T (ATM) | XP_005271619.2:p.Gly1998= | |
| XM_006718843.4:c.5994A>T (ATM) | XP_006718906.1:p.Gly1998= | |
| XM_006718845.2:c.1950A>T (ATM) | XP_006718908.1:p.Gly650= | |
| XM_011542840.3:c.5994A>T (ATM) | XP_011541142.1:p.Gly1998= | |
| XM_011542842.3:c.5829A>T (ATM) | XP_011541144.1:p.Gly1943= | |
| XM_011542843.2:c.5994A>T (ATM) | XP_011541145.1:p.Gly1998= | |
| XM_011542844.3:c.4950A>T (ATM) | XP_011541146.1:p.Gly1650= | |
| XM_011542845.2:c.4686A>T (ATM) | XP_011541147.1:p.Gly1562= | |
| XM_017017789.2:c.5994A>T (ATM) | XP_016873278.1:p.Gly1998= | |
| XM_017017790.2:c.5994A>T (ATM) | XP_016873279.1:p.Gly1998= | |
| XM_017017791.1:c.5994A>T (ATM) | XP_016873280.1:p.Gly1998= | |
| NM_001330368.2:c.641-3415T>A (C11orf65) | NP_001317297.1:n.641-3415T>A | |
| NM_001351110.2:c.*39-3415T>A (C11orf65) | NP_001338039.1:n.*39-3415T>A | |
| NM_001351834.2:c.5994A>T (ATM) | NP_001338763.1:p.Gly1998= | |
| NM_000051.4:c.5994A>T (ATM) MANE Select | NP_000042.3:p.Gly1998= |