Canonical Allele Identifier: CA228364352

Gene: ATM

Linked Data

• dbSNP Id: rs573203347
• gnomAD v3: 11-108223029-C-G
• gnomAD v4: 11-108223029-C-G
• MyVariant Identifiers: chr11:g.108093756C>G (hg19) ; chr11:g.108223029C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.108223029C>G , CM000673.2:g.108223029C>G	GRCh38
NC_000011.9:g.108093756C>G , CM000673.1:g.108093756C>G	GRCh37
NC_000011.8:g.107598966C>G	NCBI36
NG_009830.1:g.5198C>G , LRG_135:g.5198C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000452508.7:c.-276C>G	ENSP00000388058.2:n.-276C>G
ENST00000683914.2:c.-188C>G	ENSP00000507649.1:n.-188C>G
ENST00000278616.8:c.-188C>G	ENSP00000278616.4:n.-188C>G
ENST00000527805.5:c.-188C>G	ENSP00000435747.1:n.-188C>G
NM_000051.3:c.-188C>G , LRG_135t1:c.-188C>G	NP_000042.3:n.-188C>G
XM_011542843.1:c.-188C>G	XP_011541145.1:n.-188C>G
XM_011542846.1:c.-188C>G	XP_011541148.1:n.-188C>G
NM_001351834.1:c.-276C>G	NP_001338763.1:n.-276C>G
NM_001351835.1:c.-188C>G	NP_001338764.1:n.-188C>G
XM_011542842.3:c.-188C>G	XP_011541144.1:n.-188C>G
XM_011542843.2:c.-188C>G	XP_011541145.1:n.-188C>G
XM_011542844.3:c.-1210C>G	XP_011541146.1:n.-1210C>G
XM_017017791.1:c.-188C>G	XP_016873280.1:n.-188C>G
XM_017017792.2:c.-188C>G	XP_016873281.1:n.-188C>G
XR_002957150.1:n.546C>G