Canonical Allele Identifier: CA942014943

Gene: ATM

Linked Data

• dbSNP Id: rs1565336890
• gnomAD v3: 11-108223172-C-T
• gnomAD v4: 11-108223172-C-T

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.108223172C>T , CM000673.2:g.108223172C>T	GRCh38
NC_000011.9:g.108093899C>T , CM000673.1:g.108093899C>T	GRCh37
NC_000011.8:g.107599109C>T	NCBI36
NG_009830.1:g.5341C>T , LRG_135:g.5341C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000452508.7:c.-133C>T	ENSP00000388058.2:n.-133C>T
ENST00000683914.2:c.-45C>T	ENSP00000507649.1:n.-45C>T
ENST00000713593.1:c.-45C>T	ENSP00000518889.1:n.-45C>T
ENST00000683150.1:c.-196C>T	ENSP00000507125.1:n.-196C>T
ENST00000683174.1:n.106C>T
ENST00000683468.1:c.-4453C>T	ENSP00000508178.1:n.-4453C>T
ENST00000683488.1:n.129C>T
ENST00000683914.1:c.-45C>T	ENSP00000507649.1:n.-45C>T
ENST00000527805.6:c.-45C>T	ENSP00000435747.2:n.-45C>T
ENST00000639953.1:c.-217C>T	ENSP00000492487.1:n.-217C>T
ENST00000640388.1:c.-207C>T	ENSP00000492354.1:n.-207C>T
ENST00000675595.1:c.-45C>T	ENSP00000502563.1:n.-45C>T
ENST00000675843.1:c.-45C>T MANE Select	ENSP00000501606.1:n.-45C>T
ENST00000278616.8:c.-45C>T	ENSP00000278616.4:n.-45C>T
ENST00000452508.6:c.-133C>T	ENSP00000388058.2:n.-133C>T
ENST00000527805.5:c.-45C>T	ENSP00000435747.1:n.-45C>T
ENST00000527891.5:c.-45C>T	ENSP00000433955.1:n.-45C>T
ENST00000530958.5:c.-4453C>T	ENSP00000483338.1:n.-4453C>T
ENST00000532931.5:c.-119C>T	ENSP00000432318.1:n.-119C>T
NM_000051.3:c.-45C>T , LRG_135t1:c.-45C>T	NP_000042.3:n.-45C>T
XM_005271561.3:c.-133C>T	XP_005271618.2:n.-133C>T
XM_011542841.1:c.-836C>T	XP_011541143.1:n.-836C>T
XM_011542842.1:c.-45C>T	XP_011541144.1:n.-45C>T
XM_011542843.1:c.-45C>T	XP_011541145.1:n.-45C>T
XM_011542846.1:c.-45C>T	XP_011541148.1:n.-45C>T
NM_001351834.1:c.-133C>T	NP_001338763.1:n.-133C>T
NM_001351835.1:c.-45C>T	NP_001338764.1:n.-45C>T
XM_011542842.3:c.-45C>T	XP_011541144.1:n.-45C>T
XM_011542843.2:c.-45C>T	XP_011541145.1:n.-45C>T
XM_011542844.3:c.-1067C>T	XP_011541146.1:n.-1067C>T
XM_017017791.1:c.-45C>T	XP_016873280.1:n.-45C>T
XM_017017792.2:c.-45C>T	XP_016873281.1:n.-45C>T
XR_002957150.1:n.689C>T
NM_001351834.2:c.-133C>T	NP_001338763.1:n.-133C>T
NM_000051.4:c.-45C>T MANE Select	NP_000042.3:n.-45C>T
NM_001351835.2:c.-45C>T	NP_001338764.1:n.-45C>T