Canonical Allele Identifier: CA2649318

Gene: ATR

Linked Data

• dbSNP Id: rs769934646
• ExAC: 3:142188156 A / G
• gnomAD v2: 3-142188156-A-G
• gnomAD v3: 3-142469314-A-G
• gnomAD v4: 3-142469314-A-G
• MyVariant Identifiers: chr3:g.142188156A>G (hg19) ; chr3:g.142469314A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.142469314A>G , CM000665.2:g.142469314A>G	GRCh38
NC_000003.11:g.142188156A>G , CM000665.1:g.142188156A>G	GRCh37
NC_000003.10:g.143670846A>G	NCBI36
NG_008951.1:g.114513T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000350721.9:c.6552+23T>C MANE Select	ENSP00000343741.4:n.6552+23T>C
ENST00000513291.2:n.1736+23T>C
ENST00000654170.1:n.1395+23T>C
ENST00000656590.1:c.5342+23T>C
ENST00000661310.1:c.6360+23T>C	ENSP00000499589.1:n.6360+23T>C
ENST00000665483.1:n.407+23T>C
ENST00000666447.1:n.410T>C
ENST00000666943.1:n.2039T>C
ENST00000350721.8:c.6552+23T>C	ENSP00000343741.4:n.6552+23T>C
ENST00000513291.1:c.91+23T>C
NM_001184.3:c.6552+23T>C	NP_001175.2:n.6552+23T>C
XM_011512924.1:c.6558+23T>C	XP_011511226.1:n.6558+23T>C
XM_011512925.1:c.6366+23T>C	XP_011511227.1:n.6366+23T>C
XR_924147.1:n.6647+23T>C
XR_924148.1:n.6647+23T>C
XR_924149.1:n.6526+23T>C
NM_001354579.1:c.6360+23T>C	NP_001341508.1:n.6360+23T>C
XR_001740179.2:n.6641+23T>C
XR_924148.2:n.6647+23T>C
NM_001184.4:c.6552+23T>C MANE Select	NP_001175.2:n.6552+23T>C
NM_001354579.2:c.6360+23T>C	NP_001341508.1:n.6360+23T>C