Canonical Allele Identifier: CA10633298
Gene: ATM HGNC NCBI

Identifiers and link-outs to other resources

ClinVar Variation Id: 302240
ClinVar RCV Id: RCV000304644
dbSNP Id: rs189037

User contributed link-outs

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.108223106G>A , CM000673.2:g.108223106G>A GRCh38
NC_000011.8:g.107599043G>A NCBI36
NC_000011.9:g.108093833G>A , CM000673.1:g.108093833G>A GRCh37
NG_009830.1:g.5275G>A , LRG_135:g.5275G>A

Transcript Alleles

HGVS Amino-acid change
ENST00000278616.8:c.-111G>A ENSP00000278616.4:p.=
ENST00000527805.5:c.-111G>A ENSP00000435747.1:p.=
ENST00000527891.5:c.-111G>A ENSP00000433955.1:p.=
ENST00000530958.5:c.-4519G>A ENSP00000483338.1:p.=
ENST00000532931.5:c.-185G>A ENSP00000432318.1:p.=
NM_000051.3:c.-111G>A , LRG_135t1:c.-111G>A NP_000042.3:p.=
XM_005271561.3:c.-199G>A XP_005271618.2:p.=
XM_011542841.1:c.-902G>A XP_011541143.1:p.=
XM_011542842.1:c.-111G>A XP_011541144.1:p.=
XM_011542843.1:c.-111G>A XP_011541145.1:p.=
XM_011542846.1:c.-111G>A XP_011541148.1:p.=