Canonical Allele Identifier: CA228364118

Gene: ATM

Linked Data

• dbSNP Id: rs910041079
• gnomAD v2: 11-108093559-C-A
• gnomAD v3: 11-108222832-C-A
• gnomAD v4: 11-108222832-C-A
• MyVariant Identifiers: chr11:g.108093559C>A (hg19) ; chr11:g.108222832C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.108222832C>A , CM000673.2:g.108222832C>A	GRCh38
NC_000011.9:g.108093559C>A , CM000673.1:g.108093559C>A	GRCh37
NC_000011.8:g.107598769C>A	NCBI36
NG_009830.1:g.5001C>A , LRG_135:g.5001C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000452508.7:c.-473C>A	ENSP00000388058.2:n.-473C>A
ENST00000683914.2:c.-385C>A	ENSP00000507649.1:n.-385C>A
ENST00000278616.8:c.-385C>A	ENSP00000278616.4:n.-385C>A
ENST00000527805.5:c.-385C>A	ENSP00000435747.1:n.-385C>A
NM_000051.3:c.-385C>A , LRG_135t1:c.-385C>A	NP_000042.3:n.-385C>A
XM_011542843.1:c.-385C>A	XP_011541145.1:n.-385C>A
XM_011542846.1:c.-385C>A	XP_011541148.1:n.-385C>A
NM_001351834.1:c.-473C>A	NP_001338763.1:n.-473C>A
NM_001351835.1:c.-385C>A	NP_001338764.1:n.-385C>A
XM_011542843.2:c.-385C>A	XP_011541145.1:n.-385C>A
XM_017017791.1:c.-385C>A	XP_016873280.1:n.-385C>A
XM_017017792.2:c.-385C>A	XP_016873281.1:n.-385C>A
XR_002957150.1:n.349C>A