Canonical Allele Identifier: CA354797187

Gene: ATR

Linked Data

• dbSNP Id: rs1330914550
• gnomAD v4: 3-142513631-T-C
• MyVariant Identifiers: chr3:g.142232473T>C (hg19) ; chr3:g.142513631T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.142513631T>C , CM000665.2:g.142513631T>C	GRCh38
NC_000003.11:g.142232473T>C , CM000665.1:g.142232473T>C	GRCh37
NC_000003.10:g.143715163T>C	NCBI36
NG_008951.1:g.70196A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000350721.9:c.4511A>G MANE Select	ENSP00000343741.4:p.His1504Arg
ENST00000653868.1:n.4540A>G
ENST00000656590.1:c.3301A>G
ENST00000661310.1:c.4319A>G	ENSP00000499589.1:p.His1440Arg
ENST00000350721.8:c.4511A>G	ENSP00000343741.4:p.His1504Arg
NM_001184.3:c.4511A>G	NP_001175.2:p.His1504Arg
XM_011512924.1:c.4517A>G	XP_011511226.1:p.His1506Arg
XM_011512925.1:c.4325A>G	XP_011511227.1:p.His1442Arg
XM_011512926.1:c.4517A>G	XP_011511228.1:p.His1506Arg
XM_011512927.1:c.4517A>G	XP_011511229.1:p.His1506Arg
XR_924147.1:n.4606A>G
XR_924148.1:n.4606A>G
XR_924149.1:n.4606A>G
NM_001354579.1:c.4319A>G	NP_001341508.1:p.His1440Arg
XR_001740179.2:n.4600A>G
XR_001740180.2:n.4606A>G
XR_001740181.2:n.4606A>G
XR_001740182.1:n.4606A>G
XR_002959543.1:n.4606A>G
XR_924148.2:n.4606A>G
NM_001184.4:c.4511A>G MANE Select	NP_001175.2:p.His1504Arg
NM_001354579.2:c.4319A>G	NP_001341508.1:p.His1440Arg