Canonical Allele Identifier: CA16041395
Gene: ATM HGNC NCBI

Identifiers and link-outs to other resources

ClinVar Variation Id: 371414
ClinVar RCV Id: RCV000409221
dbSNP Id: rs1057517253

User contributed link-outs

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.108271102C>G , CM000673.2:g.108271102C>G GRCh38
NC_000011.9:g.108141829C>G , CM000673.1:g.108141829C>G GRCh37
NC_000011.8:g.107647039C>G NCBI36
NG_009830.1:g.53271C>G , LRG_135:g.53271C>G

Transcript Alleles

HGVS Amino-acid change
NM_000051.3:c.2877C>G , LRG_135t1:c.2877C>G NP_000042.3:p.Tyr959Ter
XM_005271561.3:c.2877C>G XP_005271618.2:p.Tyr959Ter
XM_005271562.3:c.2877C>G XP_005271619.2:p.Tyr959Ter
XM_006718843.2:c.2877C>G XP_006718906.1:p.Tyr959Ter
XM_011542840.1:c.2877C>G XP_011541142.1:p.Tyr959Ter
XM_011542841.1:c.2877C>G XP_011541143.1:p.Tyr959Ter
XM_011542842.1:c.2712C>G XP_011541144.1:p.Tyr904Ter
XM_011542843.1:c.2877C>G XP_011541145.1:p.Tyr959Ter
XM_011542844.1:c.1833C>G XP_011541146.1:p.Tyr611Ter
XM_011542845.1:c.1569C>G XP_011541147.1:p.Tyr523Ter
XM_011542846.1:c.2877C>G XP_011541148.1:p.Tyr959Ter
NM_001351834.1:c.2877C>G VV NP_001338763.1:p.Tyr959Ter
XM_005271562.5:c.2877C>G
XM_006718843.4:c.2877C>G
XM_011542840.3:c.2877C>G
XM_011542842.3:c.2712C>G
XM_011542843.2:c.2877C>G
XM_011542844.3:c.1833C>G
XM_011542845.2:c.1569C>G
XM_017017789.2:c.2877C>G XP_016873278.1:p.Tyr959Ter
XM_017017790.2:c.2877C>G XP_016873279.1:p.Tyr959Ter
XM_017017791.1:c.2877C>G XP_016873280.1:p.Tyr959Ter
XM_017017792.2:c.2877C>G XP_016873281.1:p.Tyr959Ter
XR_002957150.1:n.3610C>G
ENST00000278616.8:c.2877C>G ENSP00000278616.4:p.Tyr959Ter
ENST00000419286.2:n.201-149C>G
ENST00000452508.6:c.2877C>G ENSP00000388058.2:p.Tyr959Ter
ENST00000527805.5:c.2877C>G ENSP00000435747.1:p.Tyr959Ter