Canonical Allele Identifier: CA354815746

Gene: ATR

Linked Data

• ClinVar Variation Id: 1793013
• ClinVar RCV Id: RCV002433339
• gnomAD v4: 3-142553717-T-G
• MyVariant Identifiers: chr3:g.142272559T>G (hg19) ; chr3:g.142553717T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.142553717T>G , CM000665.2:g.142553717T>G	GRCh38
NC_000003.11:g.142272559T>G , CM000665.1:g.142272559T>G	GRCh37
NC_000003.10:g.143755249T>G	NCBI36
NG_008951.1:g.30110A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000350721.9:c.2556A>C MANE Select	ENSP00000343741.4:p.Glu852Asp
ENST00000515149.3:c.*1330A>C	ENSP00000425897.3:n.*1330A>C
ENST00000653868.1:n.2585A>C
ENST00000656590.1:c.1346A>C
ENST00000659195.1:n.5431A>C
ENST00000661310.1:c.2364A>C	ENSP00000499589.1:p.Glu788Asp
ENST00000350721.8:c.2556A>C	ENSP00000343741.4:p.Glu852Asp
NM_001184.3:c.2556A>C	NP_001175.2:p.Glu852Asp
XM_011512924.1:c.2556A>C	XP_011511226.1:p.Glu852Asp
XM_011512925.1:c.2364A>C	XP_011511227.1:p.Glu788Asp
XM_011512926.1:c.2556A>C	XP_011511228.1:p.Glu852Asp
XM_011512927.1:c.2556A>C	XP_011511229.1:p.Glu852Asp
XR_924147.1:n.2645A>C
XR_924148.1:n.2645A>C
XR_924149.1:n.2645A>C
NM_001354579.1:c.2364A>C	NP_001341508.1:p.Glu788Asp
XR_001740179.2:n.2645A>C
XR_001740180.2:n.2645A>C
XR_001740181.2:n.2645A>C
XR_001740182.1:n.2645A>C
XR_002959543.1:n.2645A>C
XR_924148.2:n.2645A>C
NM_001184.4:c.2556A>C MANE Select	NP_001175.2:p.Glu852Asp
NM_001354579.2:c.2364A>C	NP_001341508.1:p.Glu788Asp