Canonical Allele Identifier: CA354823811
Gene: ATR HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.142562333C>A , CM000665.2:g.142562333C>A GRCh38
NC_000003.11:g.142281175C>A , CM000665.1:g.142281175C>A GRCh37
NC_000003.10:g.143763865C>A NCBI36
NG_008951.1:g.21494G>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000350721.9:c.1069G>T MANE Select ENSP00000343741.4:p.Val357Leu
ENST00000515149.3:c.293-912G>T ENSP00000425897.3:n.293-912G>T
ENST00000653868.1:n.1098G>T
ENST00000657914.1:n.3427G>T
ENST00000659195.1:n.3134G>T
ENST00000661310.1:c.1069G>T ENSP00000499589.1:p.Val357Leu
ENST00000350721.8:c.1069G>T ENSP00000343741.4:p.Val357Leu
ENST00000507148.1:c.*5G>T ENSP00000426595.1:n.*5G>T
ENST00000515149.2:c.112G>T ENSP00000425897.2:p.Val38Leu
NM_001184.3:c.1069G>T NP_001175.2:p.Val357Leu
XM_011512924.1:c.1069G>T XP_011511226.1:p.Val357Leu
XM_011512925.1:c.1069G>T XP_011511227.1:p.Val357Leu
XM_011512926.1:c.1069G>T XP_011511228.1:p.Val357Leu
XM_011512927.1:c.1069G>T XP_011511229.1:p.Val357Leu
XR_924147.1:n.1158G>T
XR_924148.1:n.1158G>T
XR_924149.1:n.1158G>T
NM_001354579.1:c.1069G>T NP_001341508.1:p.Val357Leu
XR_001740179.2:n.1158G>T
XR_001740180.2:n.1158G>T
XR_001740181.2:n.1158G>T
XR_001740182.1:n.1158G>T
XR_002959543.1:n.1158G>T
XR_924148.2:n.1158G>T
NM_001184.4:c.1069G>T MANE Select NP_001175.2:p.Val357Leu
NM_001354579.2:c.1069G>T NP_001341508.1:p.Val357Leu