Canonical Allele Identifier: CA228364454

Gene: ATM

Linked Data

• dbSNP Id: rs530603679
• gnomAD v3: 11-108223137-G-A
• gnomAD v4: 11-108223137-G-A
• MyVariant Identifiers: chr11:g.108093864G>A (hg19) ; chr11:g.108223137G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.108223137G>A , CM000673.2:g.108223137G>A	GRCh38
NC_000011.9:g.108093864G>A , CM000673.1:g.108093864G>A	GRCh37
NC_000011.8:g.107599074G>A	NCBI36
NG_009830.1:g.5306G>A , LRG_135:g.5306G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000452508.7:c.-168G>A	ENSP00000388058.2:n.-168G>A
ENST00000683914.2:c.-80G>A	ENSP00000507649.1:n.-80G>A
ENST00000713593.1:c.-80G>A	ENSP00000518889.1:n.-80G>A
ENST00000683174.1:n.71G>A
ENST00000683468.1:c.-4488G>A	ENSP00000508178.1:n.-4488G>A
ENST00000683488.1:n.94G>A
ENST00000527805.6:c.-80G>A	ENSP00000435747.2:n.-80G>A
ENST00000675595.1:c.-80G>A	ENSP00000502563.1:n.-80G>A
ENST00000675843.1:c.-80G>A MANE Select	ENSP00000501606.1:n.-80G>A
ENST00000278616.8:c.-80G>A	ENSP00000278616.4:n.-80G>A
ENST00000452508.6:c.-168G>A	ENSP00000388058.2:n.-168G>A
ENST00000527805.5:c.-80G>A	ENSP00000435747.1:n.-80G>A
ENST00000527891.5:c.-80G>A	ENSP00000433955.1:n.-80G>A
ENST00000530958.5:c.-4488G>A	ENSP00000483338.1:n.-4488G>A
ENST00000532931.5:c.-154G>A	ENSP00000432318.1:n.-154G>A
NM_000051.3:c.-80G>A , LRG_135t1:c.-80G>A	NP_000042.3:n.-80G>A
XM_005271561.3:c.-168G>A	XP_005271618.2:n.-168G>A
XM_011542841.1:c.-871G>A	XP_011541143.1:n.-871G>A
XM_011542842.1:c.-80G>A	XP_011541144.1:n.-80G>A
XM_011542843.1:c.-80G>A	XP_011541145.1:n.-80G>A
XM_011542846.1:c.-80G>A	XP_011541148.1:n.-80G>A
NM_001351834.1:c.-168G>A	NP_001338763.1:n.-168G>A
NM_001351835.1:c.-80G>A	NP_001338764.1:n.-80G>A
XM_011542842.3:c.-80G>A	XP_011541144.1:n.-80G>A
XM_011542843.2:c.-80G>A	XP_011541145.1:n.-80G>A
XM_011542844.3:c.-1102G>A	XP_011541146.1:n.-1102G>A
XM_017017791.1:c.-80G>A	XP_016873280.1:n.-80G>A
XM_017017792.2:c.-80G>A	XP_016873281.1:n.-80G>A
XR_002957150.1:n.654G>A
NM_001351834.2:c.-168G>A	NP_001338763.1:n.-168G>A
NM_000051.4:c.-80G>A MANE Select	NP_000042.3:n.-80G>A
NM_001351835.2:c.-80G>A	NP_001338764.1:n.-80G>A