Canonical Allele Identifier: CA354793990

Gene: ATR

Linked Data

• dbSNP Id: rs1193847387
• gnomAD v2: 3-142168443-G-A
• gnomAD v3: 3-142449601-G-A
• gnomAD v4: 3-142449601-G-A
• MyVariant Identifiers: chr3:g.142168443G>A (hg19) ; chr3:g.142449601G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.142449601G>A , CM000665.2:g.142449601G>A	GRCh38
NC_000003.11:g.142168443G>A , CM000665.1:g.142168443G>A	GRCh37
NC_000003.10:g.143651133G>A	NCBI36
NG_008951.1:g.134226C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000350721.9:c.7763C>T MANE Select	ENSP00000343741.4:p.Ala2588Val
ENST00000513291.2:n.6472C>T
ENST00000653893.1:n.2621C>T
ENST00000654170.1:n.2606C>T
ENST00000656114.1:n.2849C>T
ENST00000656590.1:c.6690C>T
ENST00000658083.1:n.2943C>T
ENST00000661310.1:c.7571C>T	ENSP00000499589.1:p.Ala2524Val
ENST00000665483.1:n.5303C>T
ENST00000666447.1:n.4266C>T
ENST00000666943.1:n.4495C>T
ENST00000350721.8:c.7763C>T	ENSP00000343741.4:p.Ala2588Val
ENST00000504521.5:c.352C>T	ENSP00000422553.1:n.352C>T
ENST00000513291.1:c.4827C>T
ENST00000515810.1:c.189C>T	ENSP00000421870.1:n.189C>T
NM_001184.3:c.7763C>T	NP_001175.2:p.Ala2588Val
XM_011512924.1:c.7769C>T	XP_011511226.1:p.Ala2590Val
XM_011512925.1:c.7577C>T	XP_011511227.1:p.Ala2526Val
XR_924147.1:n.10520C>T
XR_924148.1:n.7995C>T
NM_001354579.1:c.7571C>T	NP_001341508.1:p.Ala2524Val
XR_001740179.2:n.7989C>T
XR_924148.2:n.7995C>T
NM_001184.4:c.7763C>T MANE Select	NP_001175.2:p.Ala2588Val
NM_001354579.2:c.7571C>T	NP_001341508.1:p.Ala2524Val