Canonical Allele Identifier: CA2649820

Gene: ATR

Linked Data

• dbSNP Id: rs750473401
• ExAC: 3:142232459 T / C
• gnomAD v2: 3-142232459-T-C
• gnomAD v4: 3-142513617-T-C
• MyVariant Identifiers: chr3:g.142232459T>C (hg19) ; chr3:g.142513617T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.142513617T>C , CM000665.2:g.142513617T>C	GRCh38
NC_000003.11:g.142232459T>C , CM000665.1:g.142232459T>C	GRCh37
NC_000003.10:g.143715149T>C	NCBI36
NG_008951.1:g.70210A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000350721.9:c.4525A>G MANE Select	ENSP00000343741.4:p.Lys1509Glu
ENST00000653868.1:n.4554A>G
ENST00000656590.1:c.3315A>G
ENST00000661310.1:c.4333A>G	ENSP00000499589.1:p.Lys1445Glu
ENST00000350721.8:c.4525A>G	ENSP00000343741.4:p.Lys1509Glu
NM_001184.3:c.4525A>G	NP_001175.2:p.Lys1509Glu
XM_011512924.1:c.4531A>G	XP_011511226.1:p.Lys1511Glu
XM_011512925.1:c.4339A>G	XP_011511227.1:p.Lys1447Glu
XM_011512926.1:c.4531A>G	XP_011511228.1:p.Lys1511Glu
XM_011512927.1:c.4531A>G	XP_011511229.1:p.Lys1511Glu
XR_924147.1:n.4620A>G
XR_924148.1:n.4620A>G
XR_924149.1:n.4620A>G
NM_001354579.1:c.4333A>G	NP_001341508.1:p.Lys1445Glu
XR_001740179.2:n.4614A>G
XR_001740180.2:n.4620A>G
XR_001740181.2:n.4620A>G
XR_001740182.1:n.4620A>G
XR_002959543.1:n.4620A>G
XR_924148.2:n.4620A>G
NM_001184.4:c.4525A>G MANE Select	NP_001175.2:p.Lys1509Glu
NM_001354579.2:c.4333A>G	NP_001341508.1:p.Lys1445Glu