Canonical Allele Identifier: CA354815501

Gene: ATR

Linked Data

• ClinVar Variation Id: 1793523
• ClinVar RCV Id: RCV002426147
• dbSNP Id: rs1460607797
• gnomAD v4: 3-142553682-T-C
• MyVariant Identifiers: chr3:g.142272524T>C (hg19) ; chr3:g.142553682T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.142553682T>C , CM000665.2:g.142553682T>C	GRCh38
NC_000003.11:g.142272524T>C , CM000665.1:g.142272524T>C	GRCh37
NC_000003.10:g.143755214T>C	NCBI36
NG_008951.1:g.30145A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000350721.9:c.2591A>G MANE Select	ENSP00000343741.4:p.Glu864Gly
ENST00000515149.3:c.*1365A>G	ENSP00000425897.3:n.*1365A>G
ENST00000653868.1:n.2620A>G
ENST00000656590.1:c.1381A>G
ENST00000659195.1:n.5466A>G
ENST00000661310.1:c.2399A>G	ENSP00000499589.1:p.Glu800Gly
ENST00000350721.8:c.2591A>G	ENSP00000343741.4:p.Glu864Gly
NM_001184.3:c.2591A>G	NP_001175.2:p.Glu864Gly
XM_011512924.1:c.2591A>G	XP_011511226.1:p.Glu864Gly
XM_011512925.1:c.2399A>G	XP_011511227.1:p.Glu800Gly
XM_011512926.1:c.2591A>G	XP_011511228.1:p.Glu864Gly
XM_011512927.1:c.2591A>G	XP_011511229.1:p.Glu864Gly
XR_924147.1:n.2680A>G
XR_924148.1:n.2680A>G
XR_924149.1:n.2680A>G
NM_001354579.1:c.2399A>G	NP_001341508.1:p.Glu800Gly
XR_001740179.2:n.2680A>G
XR_001740180.2:n.2680A>G
XR_001740181.2:n.2680A>G
XR_001740182.1:n.2680A>G
XR_002959543.1:n.2680A>G
XR_924148.2:n.2680A>G
NM_001184.4:c.2591A>G MANE Select	NP_001175.2:p.Glu864Gly
NM_001354579.2:c.2399A>G	NP_001341508.1:p.Glu800Gly