Canonical Allele Identifier: CA2649830

Gene: ATR

Linked Data

• dbSNP Id: rs779965479
• ExAC: 3:142232518 A / G
• gnomAD v2: 3-142232518-A-G
• gnomAD v4: 3-142513676-A-G
• MyVariant Identifiers: chr3:g.142232518A>G (hg19) ; chr3:g.142513676A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.142513676A>G , CM000665.2:g.142513676A>G	GRCh38
NC_000003.11:g.142232518A>G , CM000665.1:g.142232518A>G	GRCh37
NC_000003.10:g.143715208A>G	NCBI36
NG_008951.1:g.70151T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000350721.9:c.4504-38T>C MANE Select	ENSP00000343741.4:n.4504-38T>C
ENST00000653868.1:n.4533-38T>C
ENST00000656590.1:c.3294-38T>C
ENST00000661310.1:c.4312-38T>C	ENSP00000499589.1:n.4312-38T>C
ENST00000350721.8:c.4504-38T>C	ENSP00000343741.4:n.4504-38T>C
NM_001184.3:c.4504-38T>C	NP_001175.2:n.4504-38T>C
XM_011512924.1:c.4510-38T>C	XP_011511226.1:n.4510-38T>C
XM_011512925.1:c.4318-38T>C	XP_011511227.1:n.4318-38T>C
XM_011512926.1:c.4510-38T>C	XP_011511228.1:n.4510-38T>C
XM_011512927.1:c.4510-38T>C	XP_011511229.1:n.4510-38T>C
XR_924147.1:n.4599-38T>C
XR_924148.1:n.4599-38T>C
XR_924149.1:n.4599-38T>C
NM_001354579.1:c.4312-38T>C	NP_001341508.1:n.4312-38T>C
XR_001740179.2:n.4593-38T>C
XR_001740180.2:n.4599-38T>C
XR_001740181.2:n.4599-38T>C
XR_001740182.1:n.4599-38T>C
XR_002959543.1:n.4599-38T>C
XR_924148.2:n.4599-38T>C
NM_001184.4:c.4504-38T>C MANE Select	NP_001175.2:n.4504-38T>C
NM_001354579.2:c.4312-38T>C	NP_001341508.1:n.4312-38T>C