Canonical Allele Identifier: CA354815659

Gene: ATR

Linked Data

• ClinVar Variation Id: 1793173
• ClinVar RCV Id: RCV002425965
• dbSNP Id: rs2034561755
• gnomAD v4: 3-142553707-G-A
• MyVariant Identifiers: chr3:g.142272549G>A (hg19) ; chr3:g.142553707G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.142553707G>A , CM000665.2:g.142553707G>A	GRCh38
NC_000003.11:g.142272549G>A , CM000665.1:g.142272549G>A	GRCh37
NC_000003.10:g.143755239G>A	NCBI36
NG_008951.1:g.30120C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000350721.9:c.2566C>T MANE Select	ENSP00000343741.4:p.His856Tyr
ENST00000515149.3:c.*1340C>T	ENSP00000425897.3:n.*1340C>T
ENST00000653868.1:n.2595C>T
ENST00000656590.1:c.1356C>T
ENST00000659195.1:n.5441C>T
ENST00000661310.1:c.2374C>T	ENSP00000499589.1:p.His792Tyr
ENST00000350721.8:c.2566C>T	ENSP00000343741.4:p.His856Tyr
NM_001184.3:c.2566C>T	NP_001175.2:p.His856Tyr
XM_011512924.1:c.2566C>T	XP_011511226.1:p.His856Tyr
XM_011512925.1:c.2374C>T	XP_011511227.1:p.His792Tyr
XM_011512926.1:c.2566C>T	XP_011511228.1:p.His856Tyr
XM_011512927.1:c.2566C>T	XP_011511229.1:p.His856Tyr
XR_924147.1:n.2655C>T
XR_924148.1:n.2655C>T
XR_924149.1:n.2655C>T
NM_001354579.1:c.2374C>T	NP_001341508.1:p.His792Tyr
XR_001740179.2:n.2655C>T
XR_001740180.2:n.2655C>T
XR_001740181.2:n.2655C>T
XR_001740182.1:n.2655C>T
XR_002959543.1:n.2655C>T
XR_924148.2:n.2655C>T
NM_001184.4:c.2566C>T MANE Select	NP_001175.2:p.His856Tyr
NM_001354579.2:c.2374C>T	NP_001341508.1:p.His792Tyr