Canonical Allele Identifier: CA354815513

Gene: ATR

Linked Data

• ClinVar Variation Id: 3221089
• ClinVar RCV Id: RCV004507945
• gnomAD v4: 3-142553683-C-T
• MyVariant Identifiers: chr3:g.142272525C>T (hg19) ; chr3:g.142553683C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.142553683C>T , CM000665.2:g.142553683C>T	GRCh38
NC_000003.11:g.142272525C>T , CM000665.1:g.142272525C>T	GRCh37
NC_000003.10:g.143755215C>T	NCBI36
NG_008951.1:g.30144G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000350721.9:c.2590G>A MANE Select	ENSP00000343741.4:p.Glu864Lys
ENST00000515149.3:c.*1364G>A	ENSP00000425897.3:n.*1364G>A
ENST00000653868.1:n.2619G>A
ENST00000656590.1:c.1380G>A
ENST00000659195.1:n.5465G>A
ENST00000661310.1:c.2398G>A	ENSP00000499589.1:p.Glu800Lys
ENST00000350721.8:c.2590G>A	ENSP00000343741.4:p.Glu864Lys
NM_001184.3:c.2590G>A	NP_001175.2:p.Glu864Lys
XM_011512924.1:c.2590G>A	XP_011511226.1:p.Glu864Lys
XM_011512925.1:c.2398G>A	XP_011511227.1:p.Glu800Lys
XM_011512926.1:c.2590G>A	XP_011511228.1:p.Glu864Lys
XM_011512927.1:c.2590G>A	XP_011511229.1:p.Glu864Lys
XR_924147.1:n.2679G>A
XR_924148.1:n.2679G>A
XR_924149.1:n.2679G>A
NM_001354579.1:c.2398G>A	NP_001341508.1:p.Glu800Lys
XR_001740179.2:n.2679G>A
XR_001740180.2:n.2679G>A
XR_001740181.2:n.2679G>A
XR_001740182.1:n.2679G>A
XR_002959543.1:n.2679G>A
XR_924148.2:n.2679G>A
NM_001184.4:c.2590G>A MANE Select	NP_001175.2:p.Glu864Lys
NM_001354579.2:c.2398G>A	NP_001341508.1:p.Glu800Lys