Canonical Allele Identifier: CA354814785
Gene: ATR HGNC NCBI
MyVariant.info:
Revel Score:

Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.142497116C>G , CM000665.2:g.142497116C>G GRCh38
NC_000003.11:g.142215958C>G , CM000665.1:g.142215958C>G GRCh37
NC_000003.10:g.143698648C>G NCBI36
NG_008951.1:g.86711G>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000350721.9:c.5635G>C MANE Select ENSP00000343741.4:p.Asp1879His
ENST00000513291.2:n.819G>C
ENST00000653868.1:n.5664G>C
ENST00000656590.1:c.4425G>C
ENST00000661310.1:c.5443G>C ENSP00000499589.1:p.Asp1815His
ENST00000666943.1:n.1099G>C
ENST00000350721.8:c.5635G>C ENSP00000343741.4:p.Asp1879His
ENST00000507620.2:n.713+18G>C
ENST00000514393.5:n.318G>C
NM_001184.3:c.5635G>C NP_001175.2:p.Asp1879His
XM_011512924.1:c.5641G>C XP_011511226.1:p.Asp1881His
XM_011512925.1:c.5449G>C XP_011511227.1:p.Asp1817His
XM_011512926.1:c.5641G>C XP_011511228.1:p.Asp1881His
XM_011512927.1:c.5641G>C XP_011511229.1:p.Asp1881His
XR_924147.1:n.5730G>C
XR_924148.1:n.5730G>C
XR_924149.1:n.5712+18G>C
NM_001354579.1:c.5443G>C NP_001341508.1:p.Asp1815His
XR_001740179.2:n.5724G>C
XR_001740180.2:n.5730G>C
XR_001740181.2:n.5712+18G>C
XR_001740182.1:n.5712+18G>C
XR_002959543.1:n.5730G>C
XR_924148.2:n.5730G>C
NM_001184.4:c.5635G>C MANE Select NP_001175.2:p.Asp1879His
NM_001354579.2:c.5443G>C NP_001341508.1:p.Asp1815His