Canonical Allele Identifier: CA354826109
Gene: ATR HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.142562744C>A , CM000665.2:g.142562744C>A GRCh38
NC_000003.11:g.142281586C>A , CM000665.1:g.142281586C>A GRCh37
NC_000003.10:g.143764276C>A NCBI36
NG_008951.1:g.21083G>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000350721.9:c.658G>T MANE Select ENSP00000343741.4:p.Val220Leu
ENST00000515149.3:c.293-1323G>T ENSP00000425897.3:n.293-1323G>T
ENST00000653868.1:n.687G>T
ENST00000657914.1:n.3016G>T
ENST00000659195.1:n.2723G>T
ENST00000661310.1:c.658G>T ENSP00000499589.1:p.Val220Leu
ENST00000350721.8:c.658G>T ENSP00000343741.4:p.Val220Leu
ENST00000507148.1:c.293-396G>T ENSP00000426595.1:n.293-396G>T
NM_001184.3:c.658G>T NP_001175.2:p.Val220Leu
XM_011512924.1:c.658G>T XP_011511226.1:p.Val220Leu
XM_011512925.1:c.658G>T XP_011511227.1:p.Val220Leu
XM_011512926.1:c.658G>T XP_011511228.1:p.Val220Leu
XM_011512927.1:c.658G>T XP_011511229.1:p.Val220Leu
XR_924147.1:n.747G>T
XR_924148.1:n.747G>T
XR_924149.1:n.747G>T
NM_001354579.1:c.658G>T NP_001341508.1:p.Val220Leu
XR_001740179.2:n.747G>T
XR_001740180.2:n.747G>T
XR_001740181.2:n.747G>T
XR_001740182.1:n.747G>T
XR_002959543.1:n.747G>T
XR_924148.2:n.747G>T
NM_001184.4:c.658G>T MANE Select NP_001175.2:p.Val220Leu
NM_001354579.2:c.658G>T NP_001341508.1:p.Val220Leu