Canonical Allele Identifier: CA601693338

Gene: ATM

Linked Data

• dbSNP Id: rs1376715331
• gnomAD v2: 11-108093687-T-C
• gnomAD v3: 11-108222960-T-C
• gnomAD v4: 11-108222960-T-C
• MyVariant Identifiers: chr11:g.108093687T>C (hg19) ; chr11:g.108222960T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.108222960T>C , CM000673.2:g.108222960T>C	GRCh38
NC_000011.9:g.108093687T>C , CM000673.1:g.108093687T>C	GRCh37
NC_000011.8:g.107598897T>C	NCBI36
NG_009830.1:g.5129T>C , LRG_135:g.5129T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000452508.7:c.-345T>C	ENSP00000388058.2:n.-345T>C
ENST00000683914.2:c.-257T>C	ENSP00000507649.1:n.-257T>C
ENST00000278616.8:c.-257T>C	ENSP00000278616.4:n.-257T>C
ENST00000527805.5:c.-257T>C	ENSP00000435747.1:n.-257T>C
NM_000051.3:c.-257T>C , LRG_135t1:c.-257T>C	NP_000042.3:n.-257T>C
XM_011542843.1:c.-257T>C	XP_011541145.1:n.-257T>C
XM_011542846.1:c.-257T>C	XP_011541148.1:n.-257T>C
NM_001351834.1:c.-345T>C	NP_001338763.1:n.-345T>C
NM_001351835.1:c.-257T>C	NP_001338764.1:n.-257T>C
XM_011542842.3:c.-257T>C	XP_011541144.1:n.-257T>C
XM_011542843.2:c.-257T>C	XP_011541145.1:n.-257T>C
XM_011542844.3:c.-1279T>C	XP_011541146.1:n.-1279T>C
XM_017017791.1:c.-257T>C	XP_016873280.1:n.-257T>C
XM_017017792.2:c.-257T>C	XP_016873281.1:n.-257T>C
XR_002957150.1:n.477T>C