Canonical Allele Identifier: CA354824287
Gene: ATR HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.142562433T>G , CM000665.2:g.142562433T>G GRCh38
NC_000003.11:g.142281275T>G , CM000665.1:g.142281275T>G GRCh37
NC_000003.10:g.143763965T>G NCBI36
NG_008951.1:g.21394A>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000350721.9:c.969A>C MANE Select ENSP00000343741.4:p.Glu323Asp
ENST00000515149.3:c.293-1012A>C ENSP00000425897.3:n.293-1012A>C
ENST00000653868.1:n.998A>C
ENST00000657914.1:n.3327A>C
ENST00000659195.1:n.3034A>C
ENST00000661310.1:c.969A>C ENSP00000499589.1:p.Glu323Asp
ENST00000350721.8:c.969A>C ENSP00000343741.4:p.Glu323Asp
ENST00000507148.1:c.293-85A>C ENSP00000426595.1:n.293-85A>C
ENST00000515149.2:c.12A>C ENSP00000425897.2:p.Glu4Asp
NM_001184.3:c.969A>C NP_001175.2:p.Glu323Asp
XM_011512924.1:c.969A>C XP_011511226.1:p.Glu323Asp
XM_011512925.1:c.969A>C XP_011511227.1:p.Glu323Asp
XM_011512926.1:c.969A>C XP_011511228.1:p.Glu323Asp
XM_011512927.1:c.969A>C XP_011511229.1:p.Glu323Asp
XR_924147.1:n.1058A>C
XR_924148.1:n.1058A>C
XR_924149.1:n.1058A>C
NM_001354579.1:c.969A>C NP_001341508.1:p.Glu323Asp
XR_001740179.2:n.1058A>C
XR_001740180.2:n.1058A>C
XR_001740181.2:n.1058A>C
XR_001740182.1:n.1058A>C
XR_002959543.1:n.1058A>C
XR_924148.2:n.1058A>C
NM_001184.4:c.969A>C MANE Select NP_001175.2:p.Glu323Asp
NM_001354579.2:c.969A>C NP_001341508.1:p.Glu323Asp