Canonical Allele Identifier: CA354797208
Gene: ATR HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.142513638C>A , CM000665.2:g.142513638C>A GRCh38
NC_000003.11:g.142232480C>A , CM000665.1:g.142232480C>A GRCh37
NC_000003.10:g.143715170C>A NCBI36
NG_008951.1:g.70189G>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000350721.9:c.4504G>T MANE Select ENSP00000343741.4:p.Val1502Phe
ENST00000653868.1:n.4533G>T
ENST00000656590.1:c.3294G>T
ENST00000661310.1:c.4312G>T ENSP00000499589.1:p.Val1438Phe
ENST00000350721.8:c.4504G>T ENSP00000343741.4:p.Val1502Phe
NM_001184.3:c.4504G>T NP_001175.2:p.Val1502Phe
XM_011512924.1:c.4510G>T XP_011511226.1:p.Val1504Phe
XM_011512925.1:c.4318G>T XP_011511227.1:p.Val1440Phe
XM_011512926.1:c.4510G>T XP_011511228.1:p.Val1504Phe
XM_011512927.1:c.4510G>T XP_011511229.1:p.Val1504Phe
XR_924147.1:n.4599G>T
XR_924148.1:n.4599G>T
XR_924149.1:n.4599G>T
NM_001354579.1:c.4312G>T NP_001341508.1:p.Val1438Phe
XR_001740179.2:n.4593G>T
XR_001740180.2:n.4599G>T
XR_001740181.2:n.4599G>T
XR_001740182.1:n.4599G>T
XR_002959543.1:n.4599G>T
XR_924148.2:n.4599G>T
NM_001184.4:c.4504G>T MANE Select NP_001175.2:p.Val1502Phe
NM_001354579.2:c.4312G>T NP_001341508.1:p.Val1438Phe