Canonical Allele Identifier: CA2649031

Gene: ATR

Linked Data

• dbSNP Id: rs769185075
• ExAC: 3:142168447 A / G
• gnomAD v2: 3-142168447-A-G
• gnomAD v4: 3-142449605-A-G
• MyVariant Identifiers: chr3:g.142168447A>G (hg19) ; chr3:g.142449605A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.142449605A>G , CM000665.2:g.142449605A>G	GRCh38
NC_000003.11:g.142168447A>G , CM000665.1:g.142168447A>G	GRCh37
NC_000003.10:g.143651137A>G	NCBI36
NG_008951.1:g.134222T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000350721.9:c.7762-3T>C MANE Select	ENSP00000343741.4:n.7762-3T>C
ENST00000513291.2:n.6468T>C
ENST00000653893.1:n.2620-3T>C
ENST00000654170.1:n.2605-3T>C
ENST00000656114.1:n.2848-3T>C
ENST00000656590.1:c.6689-3T>C
ENST00000658083.1:n.2942-3T>C
ENST00000661310.1:c.7570-3T>C	ENSP00000499589.1:n.7570-3T>C
ENST00000665483.1:n.5302-3T>C
ENST00000666447.1:n.4265-3T>C
ENST00000666943.1:n.4494-3T>C
ENST00000350721.8:c.7762-3T>C	ENSP00000343741.4:n.7762-3T>C
ENST00000504521.5:c.351-3T>C	ENSP00000422553.1:n.351-3T>C
ENST00000513291.1:c.4823T>C
ENST00000515810.1:c.188-3T>C	ENSP00000421870.1:n.188-3T>C
NM_001184.3:c.7762-3T>C	NP_001175.2:n.7762-3T>C
XM_011512924.1:c.7768-3T>C	XP_011511226.1:n.7768-3T>C
XM_011512925.1:c.7576-3T>C	XP_011511227.1:n.7576-3T>C
XR_924147.1:n.10519-3T>C
XR_924148.1:n.7994-3T>C
NM_001354579.1:c.7570-3T>C	NP_001341508.1:n.7570-3T>C
XR_001740179.2:n.7988-3T>C
XR_924148.2:n.7994-3T>C
NM_001184.4:c.7762-3T>C MANE Select	NP_001175.2:n.7762-3T>C
NM_001354579.2:c.7570-3T>C	NP_001341508.1:n.7570-3T>C