Canonical Allele Identifier: CA354793747
Gene: ATR HGNC NCBI
MyVariant.info:
Revel Score:

Genomic Alleles

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

Transcript Alleles

HGVS Amino-acid Change
ENST00000350721.9:c.7875G>C MANE Select ENSP00000343741.4:p.Gln2625His
ENST00000513291.2:n.6584G>C
ENST00000653893.1:n.2733G>C
ENST00000654170.1:n.2718G>C
ENST00000656114.1:n.2961G>C
ENST00000656590.1:c.6802G>C
ENST00000658083.1:n.3055G>C
ENST00000661310.1:c.7683G>C ENSP00000499589.1:p.Gln2561His
ENST00000665483.1:n.5415G>C
ENST00000666447.1:n.4378G>C
ENST00000666943.1:n.4607G>C
ENST00000350721.8:c.7875G>C ENSP00000343741.4:p.Gln2625His
ENST00000504521.5:c.464G>C ENSP00000422553.1:n.464G>C
ENST00000513291.1:c.4939G>C
ENST00000515810.1:c.301G>C ENSP00000421870.1:n.301G>C
NM_001184.3:c.7875G>C NP_001175.2:p.Gln2625His
XM_011512924.1:c.7881G>C XP_011511226.1:p.Gln2627His
XM_011512925.1:c.7689G>C XP_011511227.1:p.Gln2563His
XR_924147.1:n.10632G>C
XR_924148.1:n.8107G>C
NM_001354579.1:c.7683G>C NP_001341508.1:p.Gln2561His
XR_001740179.2:n.8101G>C
XR_924148.2:n.8107G>C
NM_001184.4:c.7875G>C MANE Select NP_001175.2:p.Gln2625His
NM_001354579.2:c.7683G>C NP_001341508.1:p.Gln2561His