Canonical Allele Identifier: CA942014845

Gene: ATM

Linked Data

• dbSNP Id: rs2078564953
• gnomAD v3: 11-108223050-G-A
• gnomAD v4: 11-108223050-G-A

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.108223050G>A , CM000673.2:g.108223050G>A	GRCh38
NC_000011.9:g.108093777G>A , CM000673.1:g.108093777G>A	GRCh37
NC_000011.8:g.107598987G>A	NCBI36
NG_009830.1:g.5219G>A , LRG_135:g.5219G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000452508.7:c.-255G>A	ENSP00000388058.2:n.-255G>A
ENST00000683914.2:c.-167G>A	ENSP00000507649.1:n.-167G>A
ENST00000683488.1:n.7G>A
ENST00000278616.8:c.-167G>A	ENSP00000278616.4:n.-167G>A
ENST00000527805.5:c.-167G>A	ENSP00000435747.1:n.-167G>A
NM_000051.3:c.-167G>A , LRG_135t1:c.-167G>A	NP_000042.3:n.-167G>A
XM_011542843.1:c.-167G>A	XP_011541145.1:n.-167G>A
XM_011542846.1:c.-167G>A	XP_011541148.1:n.-167G>A
NM_001351834.1:c.-255G>A	NP_001338763.1:n.-255G>A
NM_001351835.1:c.-167G>A	NP_001338764.1:n.-167G>A
XM_011542842.3:c.-167G>A	XP_011541144.1:n.-167G>A
XM_011542843.2:c.-167G>A	XP_011541145.1:n.-167G>A
XM_011542844.3:c.-1189G>A	XP_011541146.1:n.-1189G>A
XM_017017791.1:c.-167G>A	XP_016873280.1:n.-167G>A
XM_017017792.2:c.-167G>A	XP_016873281.1:n.-167G>A
XR_002957150.1:n.567G>A