Canonical Allele Identifier: CA546893958

Gene: ATR

Linked Data

• dbSNP Id: rs1464540238
• gnomAD v2: 3-142272475-A-G
• gnomAD v4: 3-142553633-A-G
• MyVariant Identifiers: chr3:g.142272475A>G (hg19) ; chr3:g.142553633A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.142553633A>G , CM000665.2:g.142553633A>G	GRCh38
NC_000003.11:g.142272475A>G , CM000665.1:g.142272475A>G	GRCh37
NC_000003.10:g.143755165A>G	NCBI36
NG_008951.1:g.30194T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000350721.9:c.2633+7T>C MANE Select	ENSP00000343741.4:n.2633+7T>C
ENST00000515149.3:c.*1407+7T>C	ENSP00000425897.3:n.*1407+7T>C
ENST00000653868.1:n.2662+7T>C
ENST00000656590.1:c.1423+7T>C
ENST00000659195.1:n.5508+7T>C
ENST00000661310.1:c.2441+7T>C	ENSP00000499589.1:n.2441+7T>C
ENST00000350721.8:c.2633+7T>C	ENSP00000343741.4:n.2633+7T>C
NM_001184.3:c.2633+7T>C	NP_001175.2:n.2633+7T>C
XM_011512924.1:c.2633+7T>C	XP_011511226.1:n.2633+7T>C
XM_011512925.1:c.2441+7T>C	XP_011511227.1:n.2441+7T>C
XM_011512926.1:c.2633+7T>C	XP_011511228.1:n.2633+7T>C
XM_011512927.1:c.2633+7T>C	XP_011511229.1:n.2633+7T>C
XR_924147.1:n.2722+7T>C
XR_924148.1:n.2722+7T>C
XR_924149.1:n.2722+7T>C
NM_001354579.1:c.2441+7T>C	NP_001341508.1:n.2441+7T>C
XR_001740179.2:n.2722+7T>C
XR_001740180.2:n.2722+7T>C
XR_001740181.2:n.2722+7T>C
XR_001740182.1:n.2722+7T>C
XR_002959543.1:n.2722+7T>C
XR_924148.2:n.2722+7T>C
NM_001184.4:c.2633+7T>C MANE Select	NP_001175.2:n.2633+7T>C
NM_001354579.2:c.2441+7T>C	NP_001341508.1:n.2441+7T>C