Canonical Allele Identifier: CA147190
Gene: ATR HGNC NCBI
gnomAD v4:

Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.142449489C>T , CM000665.2:g.142449489C>T GRCh38
NC_000003.11:g.142168331C>T , CM000665.1:g.142168331C>T GRCh37
NC_000003.10:g.143651021C>T NCBI36
NG_008951.1:g.134338G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000350721.9:c.7875G>A MANE Select ENSP00000343741.4:p.Gln2625=
ENST00000513291.2:n.6584G>A
ENST00000653893.1:n.2733G>A
ENST00000654170.1:n.2718G>A
ENST00000656114.1:n.2961G>A
ENST00000656590.1:c.6802G>A
ENST00000658083.1:n.3055G>A
ENST00000661310.1:c.7683G>A ENSP00000499589.1:p.Gln2561=
ENST00000665483.1:n.5415G>A
ENST00000666447.1:n.4378G>A
ENST00000666943.1:n.4607G>A
ENST00000350721.8:c.7875G>A ENSP00000343741.4:p.Gln2625=
ENST00000504521.5:c.464G>A ENSP00000422553.1:n.464G>A
ENST00000513291.1:c.4939G>A
ENST00000515810.1:c.301G>A ENSP00000421870.1:n.301G>A
NM_001184.3:c.7875G>A NP_001175.2:p.Gln2625=
XM_011512924.1:c.7881G>A XP_011511226.1:p.Gln2627=
XM_011512925.1:c.7689G>A XP_011511227.1:p.Gln2563=
XR_924147.1:n.10632G>A
XR_924148.1:n.8107G>A
NM_001354579.1:c.7683G>A NP_001341508.1:p.Gln2561=
XR_001740179.2:n.8101G>A
XR_924148.2:n.8107G>A
NM_001184.4:c.7875G>A MANE Select NP_001175.2:p.Gln2625=
NM_001354579.2:c.7683G>A NP_001341508.1:p.Gln2561=