Canonical Allele Identifier: CA942014688
Gene: ATM HGNC NCBI

Linked Data

dbSNP Id: rs1293262160
gnomAD v3: 11-108222831-C-A
gnomAD v4: 11-108222831-C-A
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Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.108222831C>A , CM000673.2:g.108222831C>A GRCh38
NC_000011.9:g.108093558C>A , CM000673.1:g.108093558C>A GRCh37
NC_000011.8:g.107598768C>A NCBI36
NG_009830.1:g.5000C>A , LRG_135:g.5000C>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000452508.7:c.-474C>A ENSP00000388058.2:n.-474C>A
ENST00000683914.2:c.-386C>A ENSP00000507649.1:n.-386C>A
ENST00000527805.5:c.-386C>A ENSP00000435747.1:n.-386C>A
XM_011542843.1:c.-386C>A XP_011541145.1:n.-386C>A
XM_011542846.1:c.-386C>A XP_011541148.1:n.-386C>A
XM_011542843.2:c.-386C>A XP_011541145.1:n.-386C>A
XM_017017791.1:c.-386C>A XP_016873280.1:n.-386C>A
XM_017017792.2:c.-386C>A XP_016873281.1:n.-386C>A
XR_002957150.1:n.348C>A
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