Canonical Allele Identifier: CA942014742

Gene: ATM

Linked Data

• dbSNP Id: rs2078558436
• gnomAD v3: 11-108222933-A-C
• gnomAD v4: 11-108222933-A-C

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.108222933A>C , CM000673.2:g.108222933A>C	GRCh38
NC_000011.9:g.108093660A>C , CM000673.1:g.108093660A>C	GRCh37
NC_000011.8:g.107598870A>C	NCBI36
NG_009830.1:g.5102A>C , LRG_135:g.5102A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000452508.7:c.-372A>C	ENSP00000388058.2:n.-372A>C
ENST00000683914.2:c.-284A>C	ENSP00000507649.1:n.-284A>C
ENST00000278616.8:c.-284A>C	ENSP00000278616.4:n.-284A>C
ENST00000527805.5:c.-284A>C	ENSP00000435747.1:n.-284A>C
NM_000051.3:c.-284A>C , LRG_135t1:c.-284A>C	NP_000042.3:n.-284A>C
XM_011542843.1:c.-284A>C	XP_011541145.1:n.-284A>C
XM_011542846.1:c.-284A>C	XP_011541148.1:n.-284A>C
NM_001351834.1:c.-372A>C	NP_001338763.1:n.-372A>C
NM_001351835.1:c.-284A>C	NP_001338764.1:n.-284A>C
XM_011542842.3:c.-284A>C	XP_011541144.1:n.-284A>C
XM_011542843.2:c.-284A>C	XP_011541145.1:n.-284A>C
XM_011542844.3:c.-1306A>C	XP_011541146.1:n.-1306A>C
XM_017017791.1:c.-284A>C	XP_016873280.1:n.-284A>C
XM_017017792.2:c.-284A>C	XP_016873281.1:n.-284A>C
XR_002957150.1:n.450A>C