Canonical Allele Identifier: CA354814953

Gene: ATR

Linked Data

• ClinVar Variation Id: 1367550
• ClinVar RCV Id: RCV001947349 ; RCV002550398
• dbSNP Id: rs1226032953
• gnomAD v2: 3-142272238-G-T
• gnomAD v3: 3-142553396-G-T
• gnomAD v4: 3-142553396-G-T
• MyVariant Identifiers: chr3:g.142272238G>T (hg19) ; chr3:g.142553396G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.142553396G>T , CM000665.2:g.142553396G>T	GRCh38
NC_000003.11:g.142272238G>T , CM000665.1:g.142272238G>T	GRCh37
NC_000003.10:g.143754928G>T	NCBI36
NG_008951.1:g.30431C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000350721.9:c.2636C>A MANE Select	ENSP00000343741.4:p.Ala879Asp
ENST00000515149.3:c.*1410C>A	ENSP00000425897.3:n.*1410C>A
ENST00000653868.1:n.2665C>A
ENST00000656590.1:c.1426C>A
ENST00000659195.1:n.5511C>A
ENST00000661310.1:c.2444C>A	ENSP00000499589.1:p.Ala815Asp
ENST00000350721.8:c.2636C>A	ENSP00000343741.4:p.Ala879Asp
NM_001184.3:c.2636C>A	NP_001175.2:p.Ala879Asp
XM_011512924.1:c.2636C>A	XP_011511226.1:p.Ala879Asp
XM_011512925.1:c.2444C>A	XP_011511227.1:p.Ala815Asp
XM_011512926.1:c.2636C>A	XP_011511228.1:p.Ala879Asp
XM_011512927.1:c.2636C>A	XP_011511229.1:p.Ala879Asp
XR_924147.1:n.2725C>A
XR_924148.1:n.2725C>A
XR_924149.1:n.2725C>A
NM_001354579.1:c.2444C>A	NP_001341508.1:p.Ala815Asp
XR_001740179.2:n.2725C>A
XR_001740180.2:n.2725C>A
XR_001740181.2:n.2725C>A
XR_001740182.1:n.2725C>A
XR_002959543.1:n.2725C>A
XR_924148.2:n.2725C>A
NM_001184.4:c.2636C>A MANE Select	NP_001175.2:p.Ala879Asp
NM_001354579.2:c.2444C>A	NP_001341508.1:p.Ala815Asp