Canonical Allele Identifier: CA671406757

Gene: ATM

Linked Data

• dbSNP Id: rs1459841911
• gnomAD v3: 11-108222939-T-C
• gnomAD v4: 11-108222939-T-C
• MyVariant Identifiers: chr11:g.108093666T>C (hg19) ; chr11:g.108222939T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.108222939T>C , CM000673.2:g.108222939T>C	GRCh38
NC_000011.9:g.108093666T>C , CM000673.1:g.108093666T>C	GRCh37
NC_000011.8:g.107598876T>C	NCBI36
NG_009830.1:g.5108T>C , LRG_135:g.5108T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000452508.7:c.-366T>C	ENSP00000388058.2:n.-366T>C
ENST00000683914.2:c.-278T>C	ENSP00000507649.1:n.-278T>C
ENST00000278616.8:c.-278T>C	ENSP00000278616.4:n.-278T>C
ENST00000527805.5:c.-278T>C	ENSP00000435747.1:n.-278T>C
NM_000051.3:c.-278T>C , LRG_135t1:c.-278T>C	NP_000042.3:n.-278T>C
XM_011542843.1:c.-278T>C	XP_011541145.1:n.-278T>C
XM_011542846.1:c.-278T>C	XP_011541148.1:n.-278T>C
NM_001351834.1:c.-366T>C	NP_001338763.1:n.-366T>C
NM_001351835.1:c.-278T>C	NP_001338764.1:n.-278T>C
XM_011542842.3:c.-278T>C	XP_011541144.1:n.-278T>C
XM_011542843.2:c.-278T>C	XP_011541145.1:n.-278T>C
XM_011542844.3:c.-1300T>C	XP_011541146.1:n.-1300T>C
XM_017017791.1:c.-278T>C	XP_016873280.1:n.-278T>C
XM_017017792.2:c.-278T>C	XP_016873281.1:n.-278T>C
XR_002957150.1:n.456T>C