Canonical Allele Identifier: CA354793920
Gene: ATR HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.142449569G>T , CM000665.2:g.142449569G>T GRCh38
NC_000003.11:g.142168411G>T , CM000665.1:g.142168411G>T GRCh37
NC_000003.10:g.143651101G>T NCBI36
NG_008951.1:g.134258C>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000350721.9:c.7795C>A MANE Select ENSP00000343741.4:p.Leu2599Ile
ENST00000513291.2:n.6504C>A
ENST00000653893.1:n.2653C>A
ENST00000654170.1:n.2638C>A
ENST00000656114.1:n.2881C>A
ENST00000656590.1:c.6722C>A
ENST00000658083.1:n.2975C>A
ENST00000661310.1:c.7603C>A ENSP00000499589.1:p.Leu2535Ile
ENST00000665483.1:n.5335C>A
ENST00000666447.1:n.4298C>A
ENST00000666943.1:n.4527C>A
ENST00000350721.8:c.7795C>A ENSP00000343741.4:p.Leu2599Ile
ENST00000504521.5:c.384C>A ENSP00000422553.1:n.384C>A
ENST00000513291.1:c.4859C>A
ENST00000515810.1:c.221C>A ENSP00000421870.1:n.221C>A
NM_001184.3:c.7795C>A NP_001175.2:p.Leu2599Ile
XM_011512924.1:c.7801C>A XP_011511226.1:p.Leu2601Ile
XM_011512925.1:c.7609C>A XP_011511227.1:p.Leu2537Ile
XR_924147.1:n.10552C>A
XR_924148.1:n.8027C>A
NM_001354579.1:c.7603C>A NP_001341508.1:p.Leu2535Ile
XR_001740179.2:n.8021C>A
XR_924148.2:n.8027C>A
NM_001184.4:c.7795C>A MANE Select NP_001175.2:p.Leu2599Ile
NM_001354579.2:c.7603C>A NP_001341508.1:p.Leu2535Ile